Showing results (51-60 of 115) with videos related to

Sort By:
Pageof 12
Orphanet Journal of Rare Diseases|October 24, 2019
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndromeJulia Han, Terry Jo Bichell, Stephanie Golden, et al.
American Journal of Medical Genetics. Part A|January 25, 2019
ALG11-CDG syndrome: Expanding the phenotypeMaria K Haanpää, Bobby G Ng, Natalie M Gallant, et al.
American Heart Journal Plus : Cardiology Research and Practice|November 14, 2025
Cardiomyopathy in valosin-containing protein multisystem proteinopathy: Evaluation, diagnosis, and managementJoshua M Chan, Candela Romano, Andy Y Lee, et al.
Journal of Medical Genetics|May 20, 2018
Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndromePreeti Singh, Ranim Mahmoud, June-Anne Gold, et al.
Clinical Genetics|February 22, 2021
Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter studyRanim Mahmoud, Anna Leonenko, Merlin G Butler, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
Clinical geneticists' views of VACTERL/VATER associationBenjamin D Solomon, Kelly A Bear, Virginia Kimonis, et al.
Orphanet Journal of Rare Diseases|April 29, 2025
Assessing osteopenia and osteoporosis with dual-energy x-ray absorptiometry studies in Fabry diseaseAlyaa Shmara, Grace Lee, Mania Mgdsyan, et al.
Human Mutation|February 17, 2005
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosisAnna Caciotti, Maria Alice Donati, Avihu Boneh, et al.
Human Molecular Genetics|January 7, 2021
Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathyLan Weiss, Kwang-Mook Jung, Angele Nalbandian, et al.
Annals of Translational Medicine|August 9, 2019
Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe diseaseJousef Alandy-Dy, Marie Wencel, Kathy Hall, et al.
Pageof 12