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Publicaties 2025

Emma Research

TitleJournal titleAuthor(s)
Identifying Distinct Tourette Disorder Subtypes using Clinical DataHuijser, C.
Short- and Long-Term Effectiveness of Brief Intensive Trauma Treatment for Adolescents With Posttraumatic Stress Disorder and Their CaregiversJMIR research protocolsHoekstra, M.J.E. // Lindauer, R.J.L.
The Added Value of Parents Practicing in Virtual Reality to Illustrate the Use of Innovative Methods in Parent-Child Interaction TherapyJMIR Pediatrics and ParentingLindauer, R.J.L. // Popma, A.
Supportive Parenting for Anxious Childhood Emotions (SPACE): De behandeling van angst en dwang via oudersSysteemtherapieHuijser, C.
MCT8 Deficiency in FemalesJournal of clinical endocrinology and metabolismvan Trotsenburg, A. S. // van Trotsenburg, A.S.P.
Growth Hormone Withdrawal in Mid-PubertyJournal of clinical endocrinology and metabolismFinken, M.J.J. // van den Akker, E.L.T. // van Tellingen, V.
Transient Neonatal Hypothyroidism Followed by Hyperthyroidism Due to Maternal Thyrotropin Receptor AntibodiesJCEM case reportsGarrelfs, M.R. // van Trotsenburg, A. S. // van Trotsenburg, A.S.P.
Maternal urinary metabolomic signatures preceding spontaneous preterm birthScientific reportsde Meij, T.G.J.
Optimizing survivorshipMorfouace, M.
Prognostic Accuracy of BPD Definitions for Long-Term Outcomes in Preterm InfantsPediatricsKatz, T.A. // Mugie, S.M. // Offringa, M. // Onland, W. // van Kaam, A.H.L.C.
Parental satisfaction on moving from open bay to single-family rooms neonatal intensive care unitEarly Human DevelopmentPascual, A. // Ruhe, K. // van Kaam, A.H.L.C. // Wielenga, J.M.
Low-dose iron chelation as anti-oxidative therapy in patients with sickle cell diseaseBritish journal of haematologyde Ligt, L.A.
Timing of puberty suppression in transgender adolescents and sexual functioning after vaginoplastyjournal of sexual medicineBungener, S.L. // de Vries, A.L.C. // Hannema, S.E. // van der Meulen, I.S. // van der Miesen, A.I.R.
ErratumPLoS ONEBoele van Hensbroek, M. // Calis, J.C.J.
Enhancing Clinical Decision-Making in Pediatric MonitoringBioengineeringCalis, J.C.J.
Motif ProbabilityJournal for the Measurement of Physical BehaviourCorpeleijn, W.E.
Anellovirus constraint from 2 to 6 months postpartum followed by betatorquevirus and gammatorquevirus dominance in serum and milkJournal of virologyvan Goudoever, J.B. // van Keulen, B.J.
TNF inhibitors affect the induction and maintenance of spike-specific B-cell responses after mRNA vaccinationRMD openKuijpers, T.W. // Kummer, L.Y.L. // van Dam, P.J.
Omalizumab voor de behandeling van IgE-gemedieerde voedselallergieënGeneesmiddelenbulletinBrand, H.K. // Broos, N.
The role of the primitive marker CD133 in CD34-negative acute myeloid leukemia for the detection of leukemia stem cellsCytometry. Part B, Clinical cytometryBachas, C.
Metagenomics approach to predict antibiotic resistance genes in sputum samples of adult people with cystic fibrosis: a pilot studyMicrobiol SpectrMaitland - van der Zee, A.H.
Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutationEuropean thyroid journalvan den Akker, E.L.T. // Zwaveling - Soonawala, N.
Using Risk Profiles To Differentiate Between Offending Trajectories in Childhood ArresteesJournal of Developmental and Life-Course CriminologyPopma, A. // van Domburgh, L.
Peters Plus SyndromeGeneReviews®Hennekam, R.C.M.
An Additional Criterion to Appraisal of Guidelines for Research and Evaluation II Might Increase the Efficiency in Guideline Development for Rare Diseases: Results of a National Delphi StudyClinical and Public Health GuidelinesBakx, R. // Hennekam, R.C.M.
Critical Functional Domains in Pediatric Onset TUBB4A-Related LeukodystrophyPediatric neurologyvan der Knaap, M.S. // Wolf, N.I.
Evolution of SARS-CoV-2 antibody repertoire after successive mRNA vaccinations under immunosuppressive treatmentEBioMedicineKuijpers, T.W. // Kummer, L.Y.L. // van Dam, P.J. // van Kempen, Z.L.E.
Universal Decentralized Cord Blood TSH Screening Should Be Offered as Routine Delivery Care in Limited-Resource SettingsInternational journal of neonatal screeningvan Trotsenburg, A. S. // van Trotsenburg, A.S.P. // Zwaveling - Soonawala, N.
Clinical characteristics and outcomes of children admitted to adult intensive care and high-dependency units in KenyaFrontiers in pediatricsvan Woensel, J.B.M.
An Information App (e-TOP) to Support Parents’ Information Needs During the First Year at Home After Preterm Birth: Development and Usability StudyJMIR Pediatrics and Parentingvan Kaam, A.H.L.C.
Inhibitory control and error processing in Obsessive-Compulsive DisorderbioRxiv : the preprint server for biologyHuijser, C.
Regional, functional and transcriptomic decoding of multidimensional brain structure alterations in obsessive-compulsive disorderhttps://www.researchsquare.com/article/rs-6900305/v1Huijser, C.
Executive control in Obsessive-Compulsive DisorderbioRxiv : the preprint server for biologyHuijser, C.
To seclude or not to seclude, is that the question?' A commentary on Yurtbasi et al. .Child and Adolescent Psychiatry and Mental HealthHuijser, C.
Optimising diagnostics for hard-of-hearing infantsEuropean Archives of Oto-Rhino-Laryngologyvan der Knaap, M.S.
Patient reported outcomes in pediatric physical therapyJournal of Patient-Reported OutcomesHaverman, L. // Luijten, M.A.J. // van Oers, H.A.
Successful Treatment of Refractory IgA-Mediated Autoimmune Hemolytic Anemia With BortezomibEJHaemKuijpers, T.W. // Rettenbacher, E
Psychiatric Genetics in Clinical PracticeAmerican journal of psychiatryMiddeldorp, C.M.
Improving Outcomes in Mental Health (IOMH)-an Australian longitudinal clinical study of families with children with neurodevelopmental problemsBMJ openMiddeldorp, C.M.
Spatiotemporal development of late and moderate preterm infant gut and oral microbiomes and impact of gestational age on early colonizationmSystemsvan Elburg, R.M.
EndoCompass ProjectHormone research in paediatricsJansen, H.I. // van Santen, H.M. // van Trotsenburg, A. S. // van Trotsenburg, A.S.P.
Epidemiology, etiology and risk factors of culture confirmed, nosocomial late onset neonatal sepsis in Western MexicoClinical Epidemiology and Global Healthde Baat, T. // van Weissenbruch, M.M.
EndoCompass ProjectHormone research in paediatricsHannema, S.E. // van Mello, N.M.
Organising maternal and newborn care in high-income countriesBMJ openBerks, D. // de Graaf, I.M. // de Graaf, Irene // van Kaam, A.H.L.C.
Pulmonary Sequelae of Severe Acute COVID-19 and Multisystem Inflammatory Syndrome (MIS-C) in Dutch ChildrenPediatric pulmonologyBrackel, CLH // Hashimoto, S. // Haverman, L. // Kuipers, I.M. // Noij, L.C.E. // Teela, L. // Terheggen - Lagro, S.W.J. // van Goudoever, J.B. // Winkel, A.M.A.M.
Clustered cardiometabolic risk in pregnancy and dysmenorrhea in offspringEuropean journal of clinical investigationFinken, M.J.J. // van den Boogaard, E.
Children and adolescents growing up with perinatal HIVvan der Post, J.
Potential benefits of l-serine in children with GRIN2B loss-of-function variantsMolecular genetics and metabolismBrands, M.M.M.G. // Bruining, H. // den Hollander, B. // Geertjens, L.M.G. // Müller, A.R. // Ramautar, J.R. // van Eeghen, A.M. // van Karnebeek, C.D.
The landscape of inter-institutional and multinational collaborations in Kawasaki diseasePaediatrics and child healthKuijpers, T.W. // Kuipers, I.M. // Netea, S.A.
Pubertal stage specific changes in T-cell subpopulations in healthy individualsScientific reportsBouts, A.H.M.
CorrectionFrontiers in Genome EditingBarraclough, A.N. // Fijnvandraat, C.J. // van Duijl, T.T. // Voorberg, J.J.
Management of Apnoea in Extremely Preterm InfantsNeonatologyHutten, G.J. // Hutten, Jeroen // Onland, W. // van de Loo, M. // van Kaam, A.H.L.C.
Plant-based proteins for infant formulaFrontiers in Nutritionvan den Akker, C.H.P.
Giant coronary artery aneurysmsEuropean Heart Journal - Case ReportsStraver, B. // Vink, A.S.
Reproducibility of Mechanical Power Equations in Ventilated Critically Ill ChildrenPediatric critical care medicineBem, R.A. // Markhorst, D.G.
The authors replyPediatric critical care medicineAssies, R. // Calis, J.C.J.
Correction toNature neurosciencePosthuma, D.
Balanceren tussen leven en doodTijdschrift voor psychiatrieGilissen, R. // Mérelle, S.Y.M.
Palliative Care for Children and Adults With Inherited Metabolic Disease in EuropeJournal of inherited metabolic diseaseBosch, A.M.
Tacit knowledge in medical consultations for patients with profound intellectual and multiple disabilitiesJournal of Intellectual and Developmental DisabilityHuisman, S.A.
Multidimensional Impacts of Elexacaftor/Tezacaftor/IvacaftorPediatric pulmonologyVerkleij, M.
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic LeukodystrophyJournal of inherited metabolic diseaseBeerepoot, S. // van der Knaap, M.S. // Wolf, N.I.
Breaking through the blockagevan der Zande, J.M.J.
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionNat. Genet.de Kruiff, C.C.
Cognitive Behavior Therapy with and Without Narrative Assessment and Suicide AttemptsJAMA network openGilissen, R. // Mérelle, S.Y.M.
The SIDECAR 2.0 (S-ICD registry in European paediatric and young adult patients with congenital heart defects 2.0)EuropaceBlom, N.A. // Bruyndonckx, L.
Views of male childhood cancer survivors on fertility preservation and restorationReproduction and FertilityKremer, L.C.M. // Mulder, C.L. // van der Pal, H.J.H. // van de Wetering, M.D. // van Maaren, J. // van Pelt, A.M.M.
Targeted literature review and assessment of evidence in microvillus inclusion disease (MVID)Clinical Nutrition Open ScienceTabbers, M.M.
Audiovisual decision making and sensory evidence weighting is not affected by impulsivity or impulsivity related behaviours in young adultsScientific reportsDekkers, T.J. // Jansen, L.M.C.
Faecal Volatile Organic Compounds to Detect Colorectal Cancerde Meij, T.G.J.
Screening for Neurocognitive Deficits in Pediatrics—the Clinical Utility of the Pediatric Perceived Cognitive Functioning item bankArchives of clinical neuropsychologyde Vries, M. // Grootenhuis, M.A. // Luijten, M.A.J. // Marchal, J.P. // Maurice - Stam, H. // Oostrom, K.J.
Outcomes in PICUHaverman, L.
Definitions and operationalizations of pediatric chronic patientsEuropean journal of pediatricsHaspels, H.N. // Haverman, L. // Timmer, K.S. // van der Perk, C.J.
Barriers to care for newly diagnosed children with cancer from Bungoma County after an awareness campaignBMC cancerKaspers, G.J.L. // Klootwijk, L. // Njuguna, F
Core Outcome Set of the Surgical Treatment of Differentiated Thyroid CarcinomaThyroidClement, S.C. // Derikx, J.P.M. // van de Berg, D.J. // van Santen, H.M. // van Trotsenburg, A. S. // van Trotsenburg, A.S.P.
Multimodal prediction of psychotic-like experiences using elastic net modelingPsychological medicinevan den Heuvel, M.P.
Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsyMolecular Therapy Nucleic Acidsvan Karnebeek, C.D.
ReplyGastroenterologyBenninga, M.A.
Advances in JDMNature Clinical Practice RheumatologyJansen, M.H.A. // van den Berg, J.M.
Prevention of postamputation pain with targeted muscle reinnervation (PreventPAP trial)BMJ openvan Wijk, M.P.
Changes in Lung Volume and Ventilation During Apnoea of Prematurity Using EITPediatric pulmonologyMiedema, M. // van Kaam, A.H.L.C.
A Novel Untargeted Molecular Detection Technique for Rapid Fecal Microbiota Profiling in Very Preterm InfantsFASEB journalde Kroon, R.R. // de Meij, T.G.J. // van Kaam, A.H.L.C. // van Wesemael, A.J.
Implementation strategy for an antibiotic stewardship bundle to promote optimal treatment choices in neonates with suspected early-onset sepsis (Protect-Neo)BMJ openPlotz, F.
Parechovirus-3 infection disrupts immunometabolism and leads to glutamate excitotoxicity in neural organoidsCellular and molecular life sciencesCapendale, P.E. // Garcia Rodriguez, I. // Pajkrt, D. // Sridhar, A.
An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory ProteinsJournal of Cachexia, Sarcopenia and MuscleLevtchenko, E.N.
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiencyBrain Communicationsvan Karnebeek, C.D.
Key priorities for the implementation of the 2023 ESC Guidelines for the management of cardiomyopathies in low-resource settingsEuropean Heart Journal - Quality of Care and Clinical OutcomesBlom, N.A.
Varying Levels of Inflammatory Activity in Brain and Body of Patients with Persistent Fatigue and Difficulty Concentrating After COVID-19Journal of nuclear medicineKoch, D.W.
Large deletions in the F8 gene predict immune tolerance induction failure in people with severe hemophilia AResearch and practice in thrombosis and haemostasisAbdi, A. // Fijnvandraat, C.J. // Gouw, S.C. // Kuijpers, T.W. // Nagelkerke, S.Q. // Oomen, I. // Voorberg, J.J.
Efficacy and safety of pharmacological therapies for functional constipation in childrenThe Lancet Child and Adolescent HealthBenninga, M.A. // de Geus, A. // Tabbers, M.M.
Mechanisms of Change in a Self-Help Parenting Program for Child Behavioral DifficultiesResearch on Child and Adolescent PsychopathologyOosterlaan, J.
Prospective, non-randomised, open-label pilot trial assessing feasibility, safety and treatment success of acupuncture in children with functional constipationBMJ openBaaleman, D.F. // Benninga, M.A. // Bloem, M.N. // de Lorijn, F // Koppen, I.J.N.
Cognitive and intellectual functioning in leukodystrophy patientsOrphanet journal of rare diseasesGrol, W.H.M. // van der Knaap, M.S. // Wolf, N.I.
Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designsGenetics in medicineBrands, M.M.M.G. // Bruining, H. // den Hollander, B. // Müller, A.R. // van Eeghen, A.M. // van Karnebeek, C.D.
Author CorrectionNat. Genet.Posthuma, D.
Genetic Contribution to Treatment-Related Dyslipidemia in Adult Survivors of Childhood CancerCancer Epidemiology Biomarkers and PreventionFeijen, E.A.M. // Kremer, L.C.M. // van der Pal, H.J.H.
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White MatterNeurologyAbbink, G.E.M. // Hannema, S.E. // Leferink, P.S. // Schoenmakers, D.H. // van der Knaap, M.S. // van Heerde, M. // van Voorst, R.J. // Wolf, N.I.
Difficulties in determining the diagnostic accuracy of an instrument to verify suspected sexual abuse in young childrenBMJ Paediatrics OpenBrilleslijper - Kater, S.N. // Teeuw, A.H. // van Goudoever, J.B. // van Ham, K. // van Rijn, R.R.
Recent advances in research and care of familial hypercholesterolaemiaLancet. Diabetes and endocrinologyWiegman, A.
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic DiseasesJournal of inherited metabolic diseaseBosch, A.M. // Brands, M.M.M.G. // Hoytema van Konijnenburg, E.M.M. // Lubout, C.M.A.
Predicting in-hospital mortality in children in low- and middle-income countriesPLoS ONECalis, J.C.J. // Voskuijl, W.P.
Antigen-specific B and T cell responses in immunosuppressed patientsKummer, L.Y.L.
Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in miceMolecular therapyvan Karnebeek, C.D.
Treatment of Neurodevelopmental Disordersvan Karnebeek, C.D.
Newborn Screening by DNA-FirstInternational journal of neonatal screeningMulder, M.F. // van Karnebeek, C.D.
Strong association with remote EBV infection in children with MS as opposed to other acquired demyelinating disordersJ. Neurol. Neurosurg. PsychiatryBakker, D.P. // Engelen, M. // Peeters - Scholte, C.M.P.C.D. // Sie, L.T.L.
Neurotransmitter-Related Disordersvan Karnebeek, C.D.
New opportunities for accessing promising non-oncological orphan drugsThe Lancet Regional Health - EuropeDeesker, L.J. // Groothoff, J.W.
The arterial switch operation for transposition of the great arteries with left ventricular outflow tract obstruction and ventricular septal defectInterdisciplinary cardiovascular and thoracic surgeryKnobbe, I. // van der Palen, RLF
Exhaled volatile organic compounds associated with chronic obstructive pulmonary disease exacerbations—a systematic review and validationJournal of breath researchBrinkman, P. // Maitland - van der Zee, A.H.
Tolerance to factor VIII in the era of nonfactor therapiesJournal of thrombosis and haemostasisFijnvandraat, C.J. // Gouw, S.C.
Machine learning in Alzheimer’s disease geneticsNat. Commun.Posthuma, D.
Recurrent ETV3BloodKemps, P.G. // Naeije, L. // van den Bos, C.
Inherited Dyslipidemic SplenomegalyGenesFerreira, E.A. // van Karnebeek, C.D.
Towards Personalised Care for Rare Genetic DisordersJournal of intellectual disability researchvan Eeghen, A.M.
Patient experiences with and adherence to Crohn’s disease exclusion diet in Dutch Crohn’s disease patientsTherapeutic advances in gastroenterologyvan der Kruk, N. // van Limbergen, J.E. // Verburgt, C.M.
Development of GROVEPatient education and counselingLabrie, N.H.M.
Towards precision rehabilitation medicine after acquired brain injuryJournal of the neurological sciencesKarssies, M.M. // Konigs, M. // Oosterlaan, J.
Genetic determinants of the complement and coagulation pathways in invasive meningococcal diseaseJournal of allergy and clinical immunologyKuijpers, T.W.
Paediatric CSF acylcarnitine reference rangesFrontiers in Molecular BiosciencesTutu-van Furth, A.M. // van der Kuip, M.
Current and novel therapeutic strategies in pediatric irritable bowel syndrome and functional abdominal pain-not otherwise specifiedExpert opinion on pharmacotherapyBenninga, M.A. // Groen, J. // Oorthuys, A.O.J.
Can PIM3 predict mortality adequately for patients admitted to Pediatric Intensive Care Unit in a resource limited setting? A single-center studyBMC pediatricsKnoester, H // van Woensel, J.B.M.
An Automated Analysis Tool for Diffusion Tensor Imaging-Based Quantitative MRI in X-Linked AdrenoleukodystrophyJournal of inherited metabolic diseaseEngelen, M. // Kabak, E.G. // Roosendaal, S.D. // Yska, H.A.F.
"Risks of incident venous thromboembolism, recurrent thromboembolism, and use of antithrombotic therapies, among children with congenital heart disease undergoing cardiac surgery Journal of thrombosis and haemostasis : JTH Klaassen, I.L.M.
Long-term lipoprotein and lipid profiles and association with metabolic risk markers in youth with perinatally acquired HIV and matched controlsLipids in health and diseaseBlokhuis, C. // Pajkrt, D. // Van den Hof, M. // van der Post, J. // van Genderen, J.G.
The gender incongruence module in the European Registries for Rare Endocrine & Bone Conditions (EuRREB)Endocr. Connect.Hannema, S.E. // Klink - Scholten, D.T.
Continuity of care in Klinefelter syndromeEndocr. Connect.Hannema, S.E.
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismAnnals of neurologyEngelen, M.
The 5-min Apgar score and primary school performanceEuropean journal of pediatricsBakker, P.C.A.M. // Onland, W. // Tacke, C.E.A.
Spontaneous coronary artery dissectionNetherlands heart journalVink, A.S.
Access to childhood cancer care in KenyaKlootwijk, L.
Effect of the gut microbiota-derived tryptophan metabolite indole-3-acetic acid in pneumoniaNature communicationsSovran, B.
Hearing assesment in children after intrauterine exposure to platinum-based treatment of pregnant cancer patientsBMC pediatricsAmant, F.C.H. // van Gerwen, M.M.A.
Potential biomarkers for tuberculous meningitis diagnosis using metabolomics and proteomicsBMC infectious diseasesTutu-van Furth, A.M. // van der Kuip, M.
The relationship between recreational cannabis use, psychotic-like experiences, and the salience network in adolescent and young adult twinsPsychological medicinevan den Heuvel, M.P.
Evolution of implantable cardioverter-defibrillator shock therapy in children in the era of optimized ICD programming and remote monitoringEP EuropaceBertels, R.A. // Blom, N.A. // Kammeraad, J.A.E.
Immunity to Streptococcus pyogenes and Common Respiratory Viruses at Age 0 to 4 Years After COVID-19 RestrictionsJAMA network openKuijpers, T.W.
Genetic evaluation of sudden unexpected death in infants and childrenEuropean journal of pediatricsEdelenbos, E. // Vlaardingerbroek, H.
Correction toJournal of clinical immunologyvan Aerde, K.J. // van den Berg, J.M.
The whole is greater than the sum of its partsTransfusionFijnvandraat, C.J. // Fustolo-Gunnink, S.F. // Houben, N.A.M. // Prins, S.A.
Individualized Prediction of Platelet Transfusion Outcomes in Preterm Infants With Severe ThrombocytopeniaJAMAFijnvandraat, C.J. // Fustolo-Gunnink, S.F. // Onland, W. // Prins, S.A. // van der Staaij, H.
Web-Based Guided Self-Help vs Treatment as Usual for Binge-Eating DisorderJAMA network openvan den Berg, E.
Polyclonal Vβ21.3 expansion in multisystem inflammatory syndrome in children despite SARS-CoV-2 vaccinationRMD openBiesbroek, G. // Gruppen, MP // Kuijpers, T.W. // Kuipers, I.M. // Nagelkerke, S.Q. // Netea, S.A. // Schoenmaker, NJ
Author CorrectionNat. Commun.Westland, R.
MHC class II presentation of FVIII-AnnexinA5 fusion proteins internalized by antigen presenting cellsFrontiers in immunologyFijnvandraat, C.J. // Voorberg, J.J.
Rewriting the scriptFrontiers in Genome EditingBarraclough, A.N. // Fijnvandraat, C.J. // van Duijl, T.T. // Voorberg, J.J.
Publisher CorrectionNat. Genet.Middeldorp, C.M.
Genetic factors predicting risk of mood disorders in adolescentsCurrent opinion in psychiatryMiddeldorp, C.M.
Probiotic supplementation – does it prevent or cause neonatal sepsis?Seminars in Fetal and Neonatal Medicinevan den Akker, C.H.P.
Impact of air pollution on COVID-19 severityEuropean respiratory reviewMaitland - van der Zee, A.H.
Prognostic factors associated with length of stay in children with an acute admission to a pediatric wardBMC pediatricsBijlsma, M.W. // Timmer, K.S. // Voskuijl, W.P.
Laboratory stress research in psychiatric and neurological populationsPsychoneuroendocrinologyde Nooij, L.
Patient reported outcomes that matter to individuals with (genetic) intellectual disabilitiesJournal of neurodevelopmental disordersHaverman, L. // van Eeghen, A.M. // van Karnebeek, C.D. // van Muilekom, M.M. // van Silfhout, N.Y.
A qualitative study on the impact of hemophilia on sexual functioning and well-being in Dutch menJournal of Patient-Reported OutcomesBrands, M.R. // Fijnvandraat, C.J. // Haverman, L. // Marchal, J.P. // Peters, M // Teela, L. // van Gastel, T.C.M.
Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophyBrain CommunicationsEngelen, M. // Roosendaal, S.D. // Stellingwerff, M.D. // van der Knaap, M.S. // Yska, H.A.F.
Right ventricular adaptation in congenital heart diseaseJTCVS OpenJoosen, R.S.
Reducing False Positives in Newborn ScreeningMetabolitesBosch, A.M.
Feminine figuresjournal of sexual medicinede Vries, A.L.C. // Hannema, S.E. // van Trotsenburg, A. S. // van Trotsenburg, A.S.P.
Prevalence and Determinants of Diabetes Mellitus in 2338 Long-Term Dutch Childhood Cancer Survivors (DCCS-LATER2 Study)Journal of clinical endocrinology and metabolismKremer, L.C.M. // van der Pal, H.J.H. // van Dulmen-den Broeder, E. // van Santen, H.M.
Differentiating Lung From Chest Wall Mechanics Is Difficult Without Esophageal Manometry in Children With Acute Respiratory Distress SyndromeCritical care medicineFlink, R.C.
Overview of European Practices for Management of Tyrosinemia Type 1Journal of inherited metabolic diseaseBrands, M.M.M.G.
Radiofrequency ablation of supraventricular tachyarrhythmias in newborns and infantsNetherlands heart journalBertels, R.A. // Blom, N.A.
Metabolic cardiomyopathiesEmbo Molecular MedicineBalfoort, B.M. // van Karnebeek, C.D.
Air pollution and long COVIDEnvironmental researchMaitland - van der Zee, A.H.
Defining a long COVID ‘expotype’ within the P4O2 COVID-19 studyEnvironmental researchMaitland - van der Zee, A.H.
Evaluating the Implementation Success of an Intensity-Adapted Guideline for Pediatric Acute Myeloid Leukemia in MalawiPediatric Blood and CancerKaspers, G.J.L.
Antimicrobial Usage Among Acutely Ill Hospitalized Children Aged 2‒23 Months in Sub-Saharan Africa and South AsiaOpen Forum Infect. Dis.Voskuijl, W.P.
A clinical and genotype-phenotype analysis of MACF1 variantsAmerican journal of human geneticsvan de Pol, L.A.
International guidelines for the imaging investigation of suspected child physical abuse (IGISPA)BMJ openTeeuw, A.H. // van Rijn, R.R.
Evaluation of Newborn Screening for Diseases Using C5-OH as a MarkerJournal of inherited metabolic diseaseAukes, R. // Bosch, A.M. // Mulder, M.F.
Self-reported Clinical Outcomes and Quality of Life in AgammaglobulinemiaJournal of clinical immunologyvan Aerde, K.J. // van den Berg, J.M.
Identification of cystatin C as a new marker of glomerular filtration rate, and of shrunken pore syndrome–a new kidney disorder defining selective glomerular hypofiltration syndromes–calls for expansion of the international KDIGO guidelinesScandinavian journal of clinical and laboratory investigationBökenkamp, A.
Do functional gut parameters predict enteral autonomy and chronic cholestasis in pediatric intestinal failure?Clinical NutritionNagelkerke, S.C.J. // Tabbers, M.M. // Vlug, L.E.
European and North American guidelines for treating irritable bowel syndrome and functional abdominal pain in childhoodThe Lancet Child and Adolescent HealthBenninga, M.A. // Groen, J. // Tabbers, M.M.
Global access to management of primary hyperoxaluriaNephrology Dialysis TransplantationDeesker, L.J. // Garrelfs, S.F. // Groothoff, J.W. // Oosterveld, M.J.S. // Oubram, L.
Alterations in diaphragmatic activity preceding and during intermittent hypoxaemia events in preterm infantsBMJ Paediatrics OpenBlom, F.A. // Hutten, G.J. // Hutten, Jeroen // van Kaam, A.H.L.C. // van Leuteren, R.W.
Systematic reviews of patient-reported outcome measures (PROMs)Quality of life researchOffringa, M.
TauroSept-Induced AnaphylaxisPediatric allergy, immunology and pulmonologyBroos, N. // Derikx, J.P.M. // Liem, O. // Mank, E. // Nusman, C.M. // Tabbers, M.M. // Terreehorst, I.
Appendicectomy in children with uncomplicated appendicitisThe LancetBachiri, S. // Gorter, R.R.
People With Haemophilia as Data CoordinatorsHaemophiliaBrands, M.R. // Gouw, SC
Differences in incidence of post-induction hypotension depending on the time of dayJournal of clinical anesthesiavan Zuylen, Mark // van Zuylen, M.L.
Understanding the development of neural abnormalities in adolescents with mental health problemsNeuroImage: ClinicalPopma, A.
Effects of anaesthesia and surgery on sleep–wake timing and subjective sleep quality in childrenAnaesthesiaBurger, P. // Gemke, R.J.B.J. // van Zuylen, Mark // van Zuylen, M.L.
Patterns of Mental Disorders in a Large Child Psychiatric Sample (N = 65,363)JAACAP OpenDekkers, T.J. // Hein, I.M. // Jansen, L.M.C. // Lindauer, R.J.L. // Polderman, Tinca J.C. // Popma, A. // Vermeiren, R.R.J.M. // Zijlmans, J.
Polygenic prediction of body mass index and obesity through the life course and across ancestriesNature medicinePosthuma, D.
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Improving Quality of Life With Dynamic Compression Bracing in Patients With Pectus CarinatumJournal of pediatric surgeryde Beer, S.A. // de Jong, J.R. // Oomen, M.W.N. // van Braak, H. // van Heurn, L.W.E. // Zwaveling, S.
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adultsJournal of inherited metabolic diseaseBrands, M.M.M.G.
Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tractPediatric NephrologyBekker, M.N. // Groen in 't Woud, S. // Groothoff, J.W. // Klomp, L.S. // Levtchenko, E.N. // Schreuder, M.F. // Vendrig, L.M. // Westland, R.
Faecal Volatile Organic Compounds to Detect Colorectal Neoplasia in Lynch Syndrome—A Prospective Longitudinal Multicentre StudyAlimentary Pharmacology and Therapeuticsde Meij, T.G.J.
Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measuresEuropean radiologyAl-Saady, M.L. // Roosendaal, S.D. // Schoenmakers, D.H. // Stellingwerff, M.D. // van der Knaap, M.S. // van Voorst, R.J. // Wolf, N.I.
Childhood Cancer Awareness Program in Bungoma County, KenyaJournal of cancer educationKaspers, G.J.L. // Klootwijk, L. // Mostert, S. // Njuguna, F
Shaping the skeletonJournal of clinical endocrinology and metabolismHannema, S.E. // Sikma, B.T. // van Trotsenburg, A. S. // van Trotsenburg, A.S.P.
Research protocol - Evaluating data quality in the Netherlands Perinatal Registry (Perined): A data comparison study using hospital records from the IUGR Risk Selection (IRIS) studyF1000ResearchOnland, W.
The evolution of nutritional care in preterm infants with a focus on the extreme preterm infantJournal of human nutrition and dieteticsvan den Akker, C.H.P.
Long-term oncological outcomes of follicular thyroid cancer in adolescents and young adultsWorld journal of surgeryDerikx, J.P.M. // Mooij, C.F. // van de Berg, D.J. // van Santen, H.M. // van Trotsenburg, A. S. // van Trotsenburg, A.S.P.
Disorders of fatty acid homeostasisJournal of inherited metabolic diseaseWanders, R.J.A.
A 15-year-old Girl with a Lateral Neck Mass Turning Out to Be Papillary Thyroid Carcinoma-Lateral Ectopic Papillary Thyroid Carcinoma or Lymph Node Metastasis?Journal of clinical research in pediatric endocrinologyDerikx, J.P.M. // Kremer, M.E.B. // Mooij, C.F. // van Trotsenburg, A. S. // van Trotsenburg, A.S.P.
Mobile Phone Applications Voice Tools and Voice Pitch Analyzer Validated With LingWAVES to Measure Voice FrequencyJournal of voiceHannema, S.E.