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The American Journal of Pathology|February 11, 2012
The Gne M712T mouse as a model for human glomerulopathySravan Kakani, Tal Yardeni, Justin Poling, et al.Human Genetics|February 19, 2017
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variantsSeth I Berger, Carla Ciccone, Karen L Simon, et al.Frontiers in Genetics|March 27, 2023
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndromeChulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, et al.Neuromuscular Disorders : NMD|September 4, 2014
Atypical presentation of GNE myopathy with asymmetric hand weaknessJohn Karl L de Dios, Joseph A Shrader, Galen O Joe, et al.Molecular Genetics & Genomic Medicine|July 19, 2017
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathyJennifer Garland, Joshi Stephen, Bradley Class, et al.Journal of Medical Genetics|October 3, 2023
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literatureMarie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2021
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 studyNuria Carrillo, May C Malicdan, Petcharat Leoyklang, et al.Pageof 4