Showing results (21-30 of 53) with videos related to

Sort By:
Pageof 6
Cold Spring Harbor Molecular Case Studies|June 14, 2020
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variantDaniel C Koboldt, Scott E Hickey, Bimal P Chaudhari, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disabilityJennifer Malinowski, David T Miller, Laurie Demmer, et al.
European Journal of Medical Genetics|March 6, 2019
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disordersElena A Repnikova, Dmitry A Lyalin, Kimberly McDonald, et al.
Cold Spring Harbor Molecular Case Studies|May 9, 2022
De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathyMaeson S Latsko, Daniel C Koboldt, Samuel J Franklin, et al.
Cold Spring Harbor Molecular Case Studies|December 15, 2019
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigreeScott E Hickey, Daniel C Koboldt, Theresa Mihalic Mosher, et al.
Cold Spring Harbor Molecular Case Studies|October 20, 2021
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndromeMohammad Marhabaie, Scott E Hickey, Katherine Miller, et al.
Clinical Genetics|September 3, 2021
Hypomorphic alleles pose challenges in rare disease genomic variant interpretationDaniel K Nolan, Bimal Chaudhari, Samuel J Franklin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2018
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Darrel Waggoner, Karen E Wain, Adrian M Dubuc, et al.
American Journal of Medical Genetics. Part A|June 2, 2025
A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation DisorderBrandon S Stone, Swetha Ramadesikan, Regan McGinley, et al.
Human Molecular Genetics|January 14, 2016
Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†Kusumika Mukherjee, Kana Ishii, Vamsee Pillalamarri, et al.
Pageof 6