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Genes|June 26, 2026
Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic DiseasesCatherine A Brownstein, Jill A Madden, Wanqing Shao, et al.HLA|March 31, 2023
Genomic characterization of HLA class I and class II genes in ethnically diverse sub-Saharan African populations: A report on novel HLA allelesIoanna Pagkrati, Jamie L Duke, Eric Mbunwe, et al.Blood|March 27, 2001
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p diseaseH Gazda, J M Lipton, T N Willig, et al.Neuromuscular Disorders : NMD|January 5, 2000
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathyC Wallgren-Pettersson, K Pelin, P Hilpelä, et al.Neurogenetics|February 29, 2012
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresSteven E Boyden, Lane J Mahoney, Genri Kawahara, et al.American Journal of Human Genetics|December 9, 2008
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patientsHanna T Gazda, Mee Rie Sheen, Adrianna Vlachos, et al.Neurology|January 5, 2021
A Cross-Sectional Study of Nemaline MyopathyKimberly Amburgey, Meryl Acker, Samia Saeed, et al.Blood|June 7, 2008
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemiaJason E Farrar, Michelle Nater, Emi Caywood, et al.Annals of Neurology|December 4, 2019
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of MyopathyRocío N Villar-Quiles, Fabio Catervi, Eva Cabet, et al.Nature Neuroscience|June 30, 2015
Different immune cells mediate mechanical pain hypersensitivity in male and female miceRobert E Sorge, Josiane C S Mapplebeck, Sarah Rosen, et al.Pageof 148