Showing results (1-10 of 48) with videos related to
Sort By:
Pageof 5
Nederlands Tijdschrift Voor Geneeskunde|December 12, 2013
[Multidisciplinary practice guideline 'Marfan syndrome']Yvonne Hilhorst-HofsteeJournal of Child Neurology|March 21, 2008
Intracranial hypertension in 2 children with marfan syndromeYvonne Hilhorst-Hofstee, Lucia J M Kroft, Gerard Pals, et al.Genes|April 17, 2020
The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original CasesCamille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, et al.The Journal of Clinical Endocrinology and Metabolism|March 1, 2019
Insight Into Molecular Determinants of T3 vs T4 Recognition From Mutations in Thyroid Hormone Receptor α and βKarn Wejaphikul, Stefan Groeneweg, Yvonne Hilhorst-Hofstee, et al.American Journal of Medical Genetics. Part A|January 19, 2010
A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic featuresJohannes G Dauwerse, Claudia A Ruivenkamp, Kerstin Hansson, et al.Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography|October 18, 2011
Biventricular performance in patients with marfan syndrome without significant valvular disease: comparison to normal subjects and longitudinal follow-upRoderick W C Scherptong, Hubert W Vliegen, Ernst E van der Wall, et al.Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|August 15, 2015
Higher Incidence of Hypospadias in Monochorionic TwinsRemco Visser, Nienke C M Burger, Erik W van Zwet, et al.Neurobiology of Disease|October 9, 2018
A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson SyndromeAlina Ilie, Andy Y L Gao, Annie Boucher, et al.Open Heart|December 21, 2022
Growth of the aortic root in children and young adults with Marfan syndromeElroy van Elsäcker, Arja S Vink, Leonie A Menke, et al.European Journal of Medical Genetics|June 15, 2010
Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypesAntoinet C J Gijsbers, Cathy A J Bosch, Johannes G Dauwerse, et al.Pageof 5