Showing results (3261-3270 of 5,826) with videos related to

Sort By:
Pageof 583
Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.
Human Mutation|May 4, 2021
von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retentionHamideh Yadegari, Arijit Biswas, Shariq Ahmed, et al.
Human Mutation|May 4, 2021
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variantsStephanie Moortgat, Isabelle Manfroid, Hélène Pendeville, et al.
Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
Human Mutation|June 26, 2015
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome SequencingEric Samorodnitsky, Benjamin M Jewell, Raffi Hagopian, et al.
Human Mutation|July 3, 2015
FAS Gene Copy Numbers are Associated with Susceptibility to Behçet Disease and VKH Syndrome in Han ChineseHongsong Yu, Le Luo, Lili Wu, et al.
Human Mutation|May 21, 2015
Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple OsteochondromasPeiqiang Su, Ye Wang, David N Cooper, et al.
Human Mutation|April 30, 2015
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)Bikash R Pattnaik, Pawan K Shahi, Meghan J Marino, et al.
Human Mutation|August 17, 2016
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited AtaxiasCecilia Marelli, Claire Guissart, Cecile Hubsch, et al.
Human Mutation|June 18, 2015
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype CorrelationsJuan Arredondo, Marian Lara, Sídney M Gospe, et al.
Pageof 583