Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Béryl Royer Bertrand"'
Autor:
Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal. Here, the authors present AutoMap, which efficiently identifies runs of ho
Externí odkaz:
https://doaj.org/article/e12a3800741f47d7be5c3348cd65ae5a
Autor:
Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen, Belinda Campos Xavier, Lauréane Mittaz Crettol, Alexander J. Lobrinus, Joseph Ghika, Matthias R. Baumgartner, Carlo Rivolta, Andrea Superti‐Furga, Thierry Kuntzer, Christopher Francklyn, Christel Tran
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 6, Pp 1072-1080 (2019)
Abstract Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed intra‐axonal inclusions suggestive of polyglucosan bodies, raising the susp
Externí odkaz:
https://doaj.org/article/691397fd3c9542e4ba75adb6c4e5b951
Autor:
Carlo Rivolta, Béryl Royer Bertrand, Virginie G. Peter, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Luisa Coutinho Santos, Alireza Pasdar, Katarina Cisarova, Mehran Piran, Mathieu Quinodoz, Nicola Bedoni, Ali Ghanbari Asad, Andrea Superti-Furga, Majid Mojarrad, Ana Berta Sousa
Publikováno v:
Nature communications, vol. 12, no. 1, pp. 518
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
© The Author(s) 2021. Open AccessThis article is licensed under a Creative CommonsAttribution 4.0 International License, which permits use, sharing,adaptation, distribution and reproduction in any medium or format, as long as you giveappropriate cre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a2c3b02407893cc63692f43ede378f
https://serval.unil.ch/notice/serval:BIB_03712A3BC8BB
https://serval.unil.ch/notice/serval:BIB_03712A3BC8BB
Autor:
Stéphanie, Droz-Georget, Orbicia, Riccio, Béryl, Royer-Bertrand, Andrea, Superti-Furga, Fabio, Candotti
Publikováno v:
Revue medicale suisse. 13(557)
Establishing the definitive diagnosis in the case of inherited immune defects (IID) is often challenging because the clinical features can be heterogeneous, atypical and overlapping different disease entities. The next generation sequencing technolog