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American Journal of Medical Genetics. Part A|November 26, 2021
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?Hui-Lin Chin, Stephanie Huynh, Jahanshah Ashkani, et al.Molecular Genetics and Metabolism|January 24, 2012
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filteringThomas C Markello, Ted Han, Hannah Carlson-Donohoe, et al.American Journal of Medical Genetics. Part A|February 6, 2026
A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and DystoniaEmilie T Théberge, Bo Sun, Ruiwu Wang, et al.Journal of Medical Genetics|November 13, 2024
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromesVahid Akbari, Sarah Dada, Yaoqing Shen, et al.Annals of Neurology|July 12, 2002
Periaxin mutations cause a broad spectrum of demyelinating neuropathiesHiroshi Takashima, Cornelius F Boerkoel, Peter De Jonghe, et al.American Journal of Medical Genetics. Part A|July 5, 2016
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungsPrzemyslaw Szafranski, Zeynep H Coban-Akdemir, Rosemarie Rupps, et al.Human Mutation|February 1, 2012
Analysis of DNA sequence variants detected by high-throughput sequencingDavid R Adams, Murat Sincan, Karin Fuentes Fajardo, et al.American Journal of Medical Genetics. Part A|February 5, 2022
Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmiaPierre K Boerkoel, Katherine Dixon, Carrie Fitzsimons, et al.Journal of Medical Genetics|December 16, 2015
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegenerationMariska Davids, Megan S Kane, Miao He, et al.American Journal of Medical Genetics. Part A|May 23, 2012
Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylationKaren Y Niederhoffer, Maria Peñaherrera, Denise Pugash, et al.Pageof 14