Showing results (101-110 of 115) with videos related to

Sort By:
Pageof 12
Journal of Medical Genetics|June 28, 2019
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domainRichard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2016
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylationChristina Lam, Carlos Ferreira, Donna Krasnewich, et al.
Pediatric Neurology|August 13, 2021
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental SyndromesOlivia J Veatch, Beth A Malow, Hye-Seung Lee, et al.
The Journal of Clinical Endocrinology and Metabolism|January 3, 2026
Diazoxide Choline Extended-Release Tablets in Prader-Willi Syndrome: A Randomized, Double-Blind, Withdrawal Period StudyJennifer L Miller, Nicola Bridges, Eric I Felner, et al.
American Journal of Medical Genetics. Part A|October 13, 2006
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformationNathaniel H Robin, Clare J Taylor, Donna M McDonald-McGinn, et al.
Cell Stress & Chaperones|July 18, 2023
The beauty and complexity of the small heat shock proteins: a report on the proceedings of the fourth workshop on small heat shock proteinsHeath Ecroyd, Britta Bartelt-Kirbach, Anat Ben-Zvi, et al.
Biorxiv : the Preprint Server for Biology|May 3, 2023
Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosisGerald Coulis, Diego Jaime, Christian Guerrero-Juarez, et al.
Journal of Medical Genetics|November 8, 2023
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE studyEric L Wallace, Ozlem Goker-Alpan, William R Wilcox, et al.
Human Mutation|July 22, 2008
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndromeDiane Beysen, Sarah De Jaegere, David Amor, et al.
Nature Genetics|November 20, 2012
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9Cristina M Justice, Garima Yagnik, Yoonhee Kim, et al.
Pageof 12