Showing results (2081-2090 of 9,786) with videos related to

Sort By:
Pageof 979
American Journal of Human Genetics|January 31, 2017
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired EndocytosisMarkus Riessland, Anna Kaczmarek, Svenja Schneider, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityYair Anikster, Tobias B Haack, Thierry Vilboux, et al.
American Journal of Human Genetics|March 19, 2019
Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human PrimatesXuling Zhu, Ling Yin, Matt Theisen, et al.
American Journal of Human Genetics|April 18, 2017
Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary AdenomasQilin Zhang, Cheng Peng, Jianping Song, et al.
American Journal of Human Genetics|June 1, 1987
Prenatal diagnosis of sickle hemoglobinopathies: the experience of the Columbia University Comprehensive Center for Sickle Cell DiseaseM C Driscoll, N Lerner, K Anyane-Yeboa, et al.
American Journal of Human Genetics|April 25, 2017
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and EpilepsyMyriam Srour, Noriaki Shimokawa, Fadi F Hamdan, et al.
American Journal of Human Genetics|August 1, 1988
The same extra FokI cleavage site exists in glucose-6-phosphate dehydrogenase variants A(+) and A(-)A Yoshida, T Takizawa
American Journal of Human Genetics|August 1, 1988
Human pregnancy-specific beta 1 glycoprotein is encoded by multiple genes localized on two chromosomesW Y Chan, W R Qiu
American Journal of Human Genetics|March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial PhenotypingFelix Marbach, Cecilie F Rustad, Angelika Riess, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
Pageof 979