J. Draaisma

发表

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

H. Kremer, L. Hoefsloot, R. Pennings, 2014, European Journal of Human Genetics.

The added value of the electrocardiogram in Noonan syndrome

F. U. T. Udink Ten Cate, J. Draaisma, E. Leenders, 2021, Cardiology in the Young.

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

R. Pfundt, B. D. de Vries, J. Veltman, 2008, American journal of medical genetics. Part A.

A new case of dup(3q) syndrome due to a pure duplication of 3qter

B. D. de Vries, D. Smeets, B. Faas, 2002, Clinical genetics.

Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review

W. Klein, J. Draaisma, E. Leenders, 2021, Molecular Syndromology.

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

L. Vissers, D. Wieczorek, D. Chitayat, 2019, Kidney international.

Feeding Problems in Patients with Noonan Syndrome: A Narrative Review

Bregtje Gunther Moor, J. Geelen, J. Draaisma, 2022, Journal of clinical medicine.

Bone Quality in Patients with a Congenital Myopathy: A Scoping Review

B. V. van Engelen, N. Voermans, C. Erasmus, 2022, Journal of neuromuscular diseases.

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.

C. Wijmenga, J. V. van Dongen, E. Strengman, 1998, American journal of human genetics.

Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants

T. Kleefstra, R. Kessels, J. Egger, 2022, Journal of clinical medicine.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study

T. Rinne, W. Klein, J. Draaisma, 2022, American journal of medical genetics. Part A.

Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives

M. N. D. Nijhuis-van der Sanden, J. Draaisma, I. van der Burgt, 2016, American journal of medical genetics. Part A.

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

N. van Alfen, H. Smeets, B. V. van Engelen, 2021, BMC Neurology.

Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy

M. Itkin, W. Klein, J. Draaisma, 2022, Journal of clinical medicine.

The lymphatic system throughout history: From hieroglyphic translations to state of the art radiological techniques

J. Fütterer, L. S. Schultze Kool, W. Klein, 2022, Clinical anatomy.

Diagnosis, Follow-Up and Therapy for Secondary Osteoporosis in Vulnerable Children: A Narrative Review

A. Dittrich, L. Ward, J. Geelen, 2023, Applied Sciences.

A four-vessel umbilical cord

J. Draaisma, Marjolijn S W Quaak, 2016, Archives of Disease in Childhood: Fetal and Neonatal Edition.

N. van Alfen, B. V. van Engelen, N. Voermans, 2023, Neurology: Genetics.

Short-term effects of an elimination diet and healthy diet in children with attention-deficit/hyperactivity disorder: a randomized-controlled trial.

J. Buitelaar, R. Donders, P. Hoekstra, 2023, European child & adolescent psychiatry.

Learning for doctor-to-doctor collaboration: a qualitative study exploring the experiences of residents and supervisors with intraprofessional workplace learning in complex tertiary care

W. Kuijer-Siebelink, J. Draaisma, Ester Coolen, 2023, BMC Medical Education.

Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group.

N. Roeleveld, M. Willemsen, J. Draaisma, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder

M. Willemsen, B. Sibbles, J. Draaisma, 2023, Orphanet Journal of Rare Diseases.

Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders

N. van Alfen, T. Rinne, H. Braakman, 2023, European Journal of Pediatrics.

Differentiating primary sarcomeric hypertrophic cardiomyopathy from Noonan syndrome: can the electrocardiogram be of use?

C. Wolf, J. Draaisma, E. Leenders, 2023, Cardiology in the young.