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المؤلفون: Hemakumar M. Reddy, Satomi Mitsuhashi, Anthony A. Amato, Hart G.W. Lidov, Monkol Lek, Peter B. Kang, Elicia Estrella, Timothy W. Yu, Elise Valkanas, David M. Margulies, Basil T. Darras, Mustafa A. Salih, Kyung-Ah Cho, Louis M. Kunkel, Daniel G. MacArthur, Catherine A. Brownstein, Michael D. Jones
المصدر: Journal of human genetics
مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Male, Duchenne muscular dystrophy, Biology, Article, 03 medical and health sciences, symbols.namesake, SGCG, 0302 clinical medicine, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Exome, Genetic Testing, Muscular dystrophy, Genetics (clinical), Exome sequencing, SGCA, Sanger sequencing, Base Sequence, Glycogen Storage Disease Type II, Sequence Analysis, DNA, medicine.disease, Congenital myopathy, Muscular Dystrophy, Facioscapulohumeral, United States, 3. Good health, Distal Myopathies, Muscular Dystrophy, Duchenne, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, symbols, Female, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e07d9476add8e76d0dac90bc7ea62d4Test
http://europepmc.org/articles/PMC5266644Test -
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المؤلفون: David R. Mowat, Taru Tukiainen, Himanshu Joshi, Ben Weisburd, Gina L. O'Grady, Elise Valkanas, Fathimath Faiz, Adam Bournazos, Simon Sadedin, Rebecca Gooding, Frances J. Evesson, Katherine R. Neas, Amanda Charlton, Hugo Sampaio, Michel Tchan, Kristi J. Jones, Monkol Lek, Nicole Graf, Jamie L. Marshall, Mark R. Davis, Charles Chan, Min-Xia Wang, Beryl B. Cummings, Daniel G. MacArthur, Alan Ma, Leigh B. Waddell, Samantha J. Bryen, Susan Arbuckle, Emily C. Oates, Sandra T. Cooper, Nigel F. Clarke, Sarah A. Sandaradura, Diane Kenwright, Michelle A. Farrar
المصدر: Neurology Genetics. 7:e554
مصطلحات موضوعية: musculoskeletal diseases, Genetics, Messenger RNA, Massive parallel sequencing, biology, RNA, medicine.disease, Complementary DNA, RNA splicing, biology.protein, medicine, Neurology (clinical), Muscular dystrophy, Dystrophin, Exome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::84786fa6905974c6d00e8b619bc4f069Test
https://doi.org/10.1212/nxg.0000000000000554Test