Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Igor Pediaditrakis"'
Autor:
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim S. Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J. Reitnauer, Meryem T. Goksungur, Michael Shy, Thomas O. Crawford, Michel Koenig, Jason Willer, Brittany N. Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski
Publikováno v:
Cell Reports, Vol 12, Iss 7, Pp 1169-1183 (2015)
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular dia
Externí odkaz:
https://doaj.org/article/b23784000fc94e8fa5337756d5dd9e52
Autor:
Jason R. Willer, Matthew N. Bainbridge, James R. Lupski, Igor Pediaditrakis, Marjorie Withers, Nicholas Katsanis, Michel Koenig, Eric Boerwinkle, Tomasz Gambin, Donna M. Muzny, Tamar Harel, Ludmila Francescatto, Pamela J. Reitnauer, Laurie B. Griffin, Yesim Parman, Wojciech Wiszniewski, Davut Pehlivan, Richard A. Gibbs, Kim Lawson, Maria Kousi, Yuji Okamoto, Anne Slavotinek, Burcak Ozes, Michael E. Shy, Thomas O. Crawford, Ender Karaca, Meryem Tuba Goksungur, Shalini N. Jhangiani, Esra Battaloglu, Brittany N. Flores, Claudia Gonzaga-Jauregui, Anthony Antonellis, Pedro Mancias, Onder Us
Publikováno v:
Cell Reports
Cell Reports, Elsevier Inc, 2015, 12 (7), pp.1169-1183. ⟨10.1016/j.celrep.2015.07.023⟩
Cell Reports, Vol 12, Iss 7, Pp 1169-1183 (2015)
Cell Reports, Elsevier Inc, 2015, 12 (7), pp.1169-1183. ⟨10.1016/j.celrep.2015.07.023⟩
Cell Reports, Vol 12, Iss 7, Pp 1169-1183 (2015)
International audience; Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy ref
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::620359e0eef3e340ad28e2c712235d9f
https://hal.umontpellier.fr/hal-01958695/file/nihms709943.pdf
https://hal.umontpellier.fr/hal-01958695/file/nihms709943.pdf
