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Published in Nature cell biology (01.11.2020)
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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant
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Published in Annals of clinical and translational neurology (01.10.2021)
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Cranial Nerve Palsies in Renal Osteodystrophy
Abid, Farida, MD, Lalani, Irfan, MD, Zakaria, Asma, MD, Facchini, Sergio A., MD, Hunter, Jill V., MD
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Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease
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Published in Muscle & nerve (01.03.2021)
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, Liu, Pengfei
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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Pediatric Autoimmune Ocular Myasthenia Gravis: Evaluation of Presentation and Treatment Outcomes in a Large Cohort
Fisher, Kristen S., Gill, Jason, Todd, Hannah F., Yang, Michael B., Lopez, Michael A., Abid, Farida, Lotze, Timothy, Shah, Veeral S.
Published in Pediatric neurology (01.05.2021)
Published in Pediatric neurology (01.05.2021)
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LncRNA H19 Alleviates Muscular Dystrophy Through Stabilizing Dystrophin
Zhang, Yaohua, Li, Yajuan, Hu, Qingsong, Xi, Yutao, Xing, Zhen, Zhang, Zhao, Huang, Lisa, Wu, Jianbo, Liang, Ke, Nguyen, Tina K., Egranov, Sergey D., Sun, Chengcao, Zhao, Zilong, Hawke, David H., Li, Jin, Sun, Deqiang, Kim, Jean J., Zhang, Ping, Cheng, Jie, Farida, Abid, Hung, Mien-Chie, Han, Leng, Darabi, Radbod, Lin, Chunru, Yang, Liuqing
Published in Nature cell biology (26.10.2020)
Published in Nature cell biology (26.10.2020)
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Journal Article
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant
Calame, Daniel G, Fatih, Jawid M, Herman, Isabella, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Jhangiani, Shalini N, Marafi, Dana, Gibbs, Richard A, Posey, Jennifer E, Mehta, Vidya P, Mohila, Carrie A, Abid, Farida, Lotze, Timothy E, Pehlivan, Davut, Adesina, Adekunle M, Lupski, James R
Published in Annals of clinical and translational neurology (01.10.2021)
Published in Annals of clinical and translational neurology (01.10.2021)
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