Showing results (11-20 of 26) with videos related to
Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|April 8, 2015
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1Glen R Monroe, Magdalena Harakalova, Saskia N van der Crabben, et al.Gynecologic Oncology|June 4, 2021
FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoringJolijn W Groeneweg, Joline F Roze, Edith D J Peters, et al.Human Molecular Genetics|March 24, 2016
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityDragana J Josifova, Glen R Monroe, Federico Tessadori, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 5, 2016
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disabilityGlen R Monroe, Gerardus W Frederix, Sanne M C Savelberg, et al.European Journal of Human Genetics : EJHG|August 18, 2016
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)Glen R Monroe, Isabelle Fpm Kappen, Marijn F Stokman, et al.American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.The New England Journal of Medicine|November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilizationPeter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.The Journal of Clinical Investigation|February 14, 2017
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorderNoa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, et al.Journal of Medical Genetics|October 23, 2015
MKS1 regulates ciliary INPP5E levels in Joubert syndromeGisela G Slaats, Christine R Isabella, Hester Y Kroes, et al.Gastroenterology|April 15, 2014
Loss of syntaxin 3 causes variant microvillus inclusion diseaseCaroline L Wiegerinck, Andreas R Janecke, Kerstin Schneeberger, et al.Pageof 3