Showing results (31-40 of 37) with videos related to
Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 37 results.
Nature Reviews. Disease Primers|June 29, 2023
Imprinting disordersThomas Eggermann, David Monk, Guiomar Perez de Nanclares, et al.Journal of Neurodevelopmental Disorders|November 3, 2025
Development of the Angelman syndrome video assessment: quantifying meaningful changeKriszha A Sheehy, Mindy G Leffler, Rebecca J Woods, et al.American Journal of Medical Genetics. Part A|February 19, 2025
International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi StudyJessica Duis, Laura Agresta, William E Bennett, et al.American Journal of Medical Genetics. Part A|March 20, 2020
Limitations of exome sequencing in detecting rare and undiagnosed diseasesKendall J Burdick, Joy D Cogan, Lynette C Rives, et al.Molecular Genetics & Genomic Medicine|February 12, 2022
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndromeJessica Duis, Mark Nespeca, Jane Summers, et al.American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.American Journal of Human Genetics|May 30, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignatureRemzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, et al.Pageof 4