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Molecular Genetics & Genomic Medicine|June 17, 2022
Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemiaDagbjört Agnarsdóttir, Vaka Kristín Sigurjónsdóttir, Arna Rut Emilsdóttir, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|November 14, 2025
Non-invasive tracking of rAAV-mediated gene expression in the liver through a genetically encoded MRI reporter geneZinia Mohanta, Aruna Singh, Hernando Lopez-Bertoni, et al.Disease Models & Mechanisms|July 20, 2023
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disordersSara A Lewis, Somayeh Bakhtiari, Jacob Forstrom, et al.Biorxiv : the Preprint Server for Biology|February 13, 2023
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorderSara A Lewis, Somayeh Bakhtiari, Jacob Forstrom, et al.American Journal of Medical Genetics. Part A|May 18, 2019
Expansion of the clinical spectrum associated with AARS2-related disordersSiddharth Srivastava, Ankur Butala, Sonal Mahida, et al.Molecular Metabolism|April 14, 2020
Mitochondrial disease disrupts hepatic allostasis and lowers the threshold for immune-mediated liver toxicityMaxim Jestin, Senta M Kapnick, Tatyana N Tarasenko, et al.Molecular Neuropsychiatry|November 4, 2015
Identification and functional studies of regulatory variants responsible for the association of NRG3 with a delusion phenotype in schizophreniaMariela Zeledón, Nicole Eckart, Margaret Taub, et al.Journal of Medical Genetics|August 13, 2015
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndromeCori DeSanto, Kristin D'Aco, Gabriel C Araujo, et al.Frontiers in Rehabilitation Sciences|October 24, 2022
Pandemic intake questionnaire to improve quality, effectiveness, and efficiency of outpatient neurologic and developmental care at the Kennedy Krieger institute during the COVID-19 pandemicPooja Vedmurthy, Connor Murray, Belinda Chen, et al.Nature|September 3, 2025
Genetic suppression features ABHD18 as a Barth syndrome therapeutic targetSanna N Masud, Anchal Srivastava, Patricia Mero, et al.Pageof 3