المؤلفون: Dana Marafi, Nina Kozar, Ruizhi Duan, Stephen Bradley, Kenji Yokochi, Fuad Al Mutairi, Nebal Waill Saadi, Sandra Whalen, Theresa Brunet, Urania Kotzaeridou, Daniela Choukair, Boris Keren, Caroline Nava, Mitsuhiro Kato, Hiroshi Arai, Tawfiq Froukh, Eissa Ali Faqeih, Ali M. AlAsmari, Mohammed M. Saleh, Filippo Pinto e Vairo, Pavel N. Pichurin, Eric W. Klee, Christopher T. Schmitz, Christopher M. Grochowski, Tadahiro Mitani, Isabella Herman, Daniel G. Calame, Jawid M. Fatih, Haowei Du, Zeynep Coban-Akdemir, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, Satoko Miyatake, Naomichi Matsumoto, Laura J. Wagstaff, Jennifer E. Posey, James R. Lupski, Dies Meijer, Matias Wagner

المصدر: Am J Hum Genet
Marafi, D, Kozar, N, Duan, R, Bradley, S, Yokochi, K, Al Mutairi, F, Waill Saadi, N, Whalen, S, Brune, T, Kotzaeridou, U, Choukair, D, Keren, B, Nava, C, Kato, M, Arai, H, Froukh, T, Faqeih, E A, AlAsmari, A M, Saleh, M M, Vairo, F P E, Pichurin, P N, Klee, E W, Schmitz, C T, Grochowski, C M, Mitani, T, Herman, I, Calame, D, Faith, J M, Du, H, Coban-Akdemir, Z, Pehlivan, D, Jhangiani, S N, Gibbs, R A, Miyatake, S, Matsumoto, N, Wagstaff, L J, Posey, J E, Lupski, J R, Meijer, D & Wagner, M 2022, ' A reverse Genetics and Genomics Approach to Gene Paralog Function and Disease : Myokymia and The Juxtaparanode ', American Journal of Human Genetics, vol. 109 . https://doi.org/10.1016/j.ajhg.2022.07.006
Am. J. Hum. Genet. 109, 1713-1723 (2022)

مصطلحات موضوعية: gene and genome instability, facial myokymia, Nerve Tissue Proteins, peripheral nerve hyperexcitability syndromes, Kcna, Lgi3, Bi-allelic Variation, Facial Myokymia, Gene And Genome Instability, Genomic Rearrangement, Multi-exonic Cnv, Neurobiology Of Disease, Peripheral Nerve Hyperexcitability Syndromes, Potassium Channel Complexes, Mice, Report, Genetics, Animals, Humans, Myokymia, Genetics (clinical), potassium channel complexes, neurobiology of disease, Autoantibodies, Mammals, KCNA, Intracellular Signaling Peptides and Proteins, Genomics, Axons, Reverse Genetics, multi-exonic CNV, Phenotype, genomic rearrangement, bi-allelic variation, LGI3

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37caee5177da2f52c5e1a52549031f22
https://pubmed.ncbi.nlm.nih.gov/35948005

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