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Handbook of Clinical Neurology|April 30, 2013
Hearing loss and deafness in the pediatric population: causes, diagnosis, and rehabilitationPaul Deltenre, Lionel Van MaldergemFrontiers in Neurology|March 21, 2017
A Postural Tremor Highly Responsive to Transcranial Cerebello-Cerebral DCS in ARCA3Florian Bodranghien, Nordeyn Oulad Ben Taib, Lionel Van Maldergem, et al.European Journal of Medical Genetics|September 18, 2012
Coronal craniosynostosis and radial ray hypoplasia: a third report of Twist mutation in a 33 weeks fetus with diaphragmatic herniaJuliette Piard, Corinne Collet, Francine Arbez-Gindre, et al.Molecular Genetics and Metabolism|May 8, 2013
Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophyFrançois-Guillaume Debray, Christel Baguette, Stéphanie Colinet, et al.European Journal of Medical Genetics|November 8, 2019
Split hand/foot malformation associated with 20p12.1 deletion: A case reportLyse Ruaud, Ricarda Flöttmann, Malte Spielmann, et al.Clinical Genetics|September 14, 2020
Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related conditionElise Brischoux-Boucher, Eric Dahlen, Céline Gronier, et al.American Journal of Medical Genetics. Part A|January 31, 2014
Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patientsMarie T Greally, Neale N Kalis, Wahid Agab, et al.Human Molecular Genetics|August 22, 2002
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxaBart Loeys, Lionel Van Maldergem, Geert Mortier, et al.American Journal of Medical Genetics|November 29, 2002
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletionWim Wuyts, Dominique Roland, Hermann-Josef Lüdecke, et al.Neuropediatrics|December 8, 2021
The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case ReportGeoffroy Delplancq, Mohamed Abdelatif Boukebir, Daniel Amsallem, et al.Pageof 13