Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Morgane Miltgen"'
Autor:
Martin Krahn, Morgane Miltgen, Christophe Béroud, Marc Bartoli, Jean-Pierre Desvignes, Valérie Delague, David Salgado
Publikováno v:
Nucleic Acids Research
Nucleic Acids Research, Oxford University Press, 2018, 46 (W1), pp.W545-W553. ⟨10.1093/nar/gky471⟩
Nucleic Acids Research, Oxford University Press, 2018, 46 (W1), pp.W545-W553. ⟨10.1093/nar/gky471⟩
International audience; With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca61cc8ee2647a3bf67d02938475dba7
https://doi.org/10.1093/nar/gky471
https://doi.org/10.1093/nar/gky471
Autor:
Arnaud Blanchard, Sylviane Olschwang, Christophe Béroud, Catherine Boileau, Martin Krahn, Aurélie Fabre, Jean-Pierre Desvignes, Morgane Miltgen, Pauline Arnaud, Amélie Pinard, David Salgado, Philippe Grandval, Stéphane Zaffran, Gwenaëlle Collod-Béroud, Laura Barre, Hélène Mathieu
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
Human Mutation, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
Human Mutation, Wiley, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
Human Mutation, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
International audience; Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better understand the whys and wheref
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::964f69a8c9f1d482456570e5a5d72fdc
https://hal.archives-ouvertes.fr/hal-01469071
https://hal.archives-ouvertes.fr/hal-01469071
Autor:
Gwenaëlle Collod-Béroud, Arnaud Blanchard, Morgane Miltgen, Mélissa Yana Frédéric, Christophe Béroud, Laura Barre, Pierre Charpentier, Ronald Mazzolenni, Alain Destée, Alexandre Kreisler, Victoria Gonzalez, Hélène Mathieu, Ghadi Rai, David Salgado, Jean-Pierre-Desvignes, Agathe Roubertie, Veronique Blanck, Xavier Douay
Publikováno v:
Movement Disorders
Movement Disorders, 2016, 31 (8), pp.1251-1252. ⟨10.1002/mds.26717⟩
Movement Disorders, Wiley, 2016, 31 (8), pp.1251-1252. ⟨10.1002/mds.26717⟩
Movement Disorders, 2016, 31 (8), pp.1251-1252. ⟨10.1002/mds.26717⟩
Movement Disorders, Wiley, 2016, 31 (8), pp.1251-1252. ⟨10.1002/mds.26717⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8650a7fad2256a73c3ac03e9cd1fb147
https://hal.science/hal-01670172
https://hal.science/hal-01670172
Autor:
Arnaud Blanchard, Ghadi Rai, Amélie Pinard, Jean-Pierre Desvignes, Christophe Béroud, Morgane Miltgen, Nicolas Lévy, Gwenaëlle Collod-Béroud, David Salgado
Publikováno v:
Human Mutation
Human Mutation, 2016, 37 (5), pp.439-446. ⟨10.1002/humu.22965⟩
Human Mutation, Wiley, 2016, 37 (5), pp.439-446. ⟨10.1002/humu.22965⟩
Human Mutation, 2016, 37 (5), pp.439-446. ⟨10.1002/humu.22965⟩
Human Mutation, Wiley, 2016, 37 (5), pp.439-446. ⟨10.1002/humu.22965⟩
International audience; Whole-exome sequencing (WES) is increasingly applied to research and clinical diagnosis of human diseases. It typically results in large amounts of genetic variations. Depending on the mode of inheritance, only one or two corr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89418cc30fe9515ef3eb75b9a9db39db
https://hal.science/hal-01670164/document
https://hal.science/hal-01670164/document