Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Anne-Laure Mosca-Boidron"'
Autor:
Frederic Tran Mau‐Them, Yannis Duffourd, Antonio Vitobello, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Sophie Nambot, Julian Delanne, Sebastien Moutton, Arthur Sorlin, Orphanomix Physician’s Group, Victor Couturier, Valentin Bourgeois, Martin Chevarin, Charlotte Poe, Anne‐Laure Mosca‐Boidron, Patrick Callier, Hana Safraou, Laurence Faivre, Christophe Philippe, Christel Thauvin‐Robinet
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Background Exome sequencing (ES) has become the most powerful and cost‐effective molecular tool for deciphering rare diseases with a diagnostic yield approaching 30%–40% in solo‐ES and 50% in trio‐ES. We applied an innovative parenta
Externí odkaz:
https://doaj.org/article/bbdbad8ddcb0479ebcf777fc0b41aff1
Autor:
Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre‐Antoine Rollat‐Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau‐Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne‐laure Mosca‐Boidron, Julien Thevenon, Laurence Faivre, Christel Thauvin‐Robinet, Caroline Schluth‐Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean‐François Deleuze, Damien Sanlaville
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Structural variants (SVs) include copy number variants (CNVs) and apparently balanced chromosomal rearrangements (ABCRs). Genome sequencing (GS) enables SV detection at base‐pair resolution, but the use of short‐read sequencin
Externí odkaz:
https://doaj.org/article/2bc4ee64a0974d0d8733a52a9dd35fe4
Autor:
Tran Mau‐Them, Frederic1,2 (AUTHOR) frederic.tran-mau-them@u-bourgogne.fr, Duffourd, Yannis2,3 (AUTHOR), Vitobello, Antonio1,2 (AUTHOR), Bruel, Ange‐Line1,2 (AUTHOR), Denommé‐Pichon, Anne‐Sophie1,2 (AUTHOR), Nambot, Sophie4 (AUTHOR), Delanne, Julian4 (AUTHOR), Moutton, Sebastien4 (AUTHOR), Sorlin, Arthur4 (AUTHOR), Couturier, Victor1,2 (AUTHOR), Bourgeois, Valentin1,2 (AUTHOR), Chevarin, Martin1,2 (AUTHOR), Poe, Charlotte1,2 (AUTHOR), Mosca‐Boidron, Anne‐Laure5 (AUTHOR), Callier, Patrick5 (AUTHOR), Safraou, Hana1,2 (AUTHOR), Faivre, Laurence2,4 (AUTHOR), Philippe, Christophe1,2 (AUTHOR), Thauvin‐Robinet, Christel1,2,3,6 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. Dec2021, Vol. 9 Issue 12, p1-15. 15p.
Autor:
Uguen, Kévin1,2 (AUTHOR) kevin.uguen@chu-brest.fr, Jubin, Claire3,4 (AUTHOR), Duffourd, Yannis5 (AUTHOR), Bardel, Claire6,7 (AUTHOR), Malan, Valérie8 (AUTHOR), Dupont, Jean‐Michel9 (AUTHOR), El Khattabi, Laila9 (AUTHOR), Chatron, Nicolas2 (AUTHOR), Vitobello, Antonio5,10 (AUTHOR), Rollat‐Farnier, Pierre‐Antoine6 (AUTHOR), Baulard, Céline3,4 (AUTHOR), Lelorch, Marc8 (AUTHOR), Leduc, Aurélie3,4 (AUTHOR), Tisserant, Emilie5 (AUTHOR), Tran Mau‐Them, Frédéric5,10 (AUTHOR), Danjean, Vincent11 (AUTHOR), Delepine, Marc3,4 (AUTHOR), Till, Marianne2 (AUTHOR), Meyer, Vincent3,4 (AUTHOR), Lyonnet, Stanislas12 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. Mar2020, Vol. 8 Issue 3, p1-11. 11p.