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pro vyhledávání: '"Phi Yen Vu"'
Autor:
Marie-Ange Delrue, Sylvain Briault, Orianne Montaubin, Laurence Taine, David Cappellen, Caroline Rooryck, Hussein Daoud, Françoise Bonnet, Benoit Arveiler, Azza Abd El Moneim, Didier Lacombe, Cong Toai Tran, Phi Yen Vu, Jérôme Toutain, Robert Saura, Christophe Philippe, Pascal Barat, Zong Qi Dai
Publikováno v:
American Journal of Medical Genetics Part A 11 (158A), 2849-2856. (2012)
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (11), pp.2849-2856. ⟨10.1002/ajmg.a.35694⟩
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (11), pp.2849-2856. ⟨10.1002/ajmg.a.35694⟩
International audience; Macrosomia, obesity, macrocephaly, and ocular abnormalities syndrome (MOMO syndrome) has been reported in only four patients to date. In these sporadic cases, no chromosomal or molecular abnormality has been identified thus fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1a0067343f399f3fdc6bd77c589f1ce
http://prodinra.inra.fr/record/172490
http://prodinra.inra.fr/record/172490
Autor:
Hussein Daoud, Phi Yen Vu, Patrick Vourc'h, Maïté Amy, Sylviane Védrine, Sylvain Briault, Nicolas Gruchy, Christian R. Andres, Nathalie Leporrier, Jean-Marc Constans, Nadia Bayou, Simone Saumureau, Edgar Moussaoui, Frédéric Laumonnier, Agnès Rötig
Publikováno v:
Human genetics. 124(6)
We have investigated the chromosome abnormalities in a female patient exhibiting mild nonsyndromic mental retardation. The patient carries a de novo balanced reciprocal translocation 46,XX,t(2;7)(q24.1;q36.1). Physical mapping of the breakpoints by f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f93c6fa6311da263b692b195a1b27921
https://pubmed.ncbi.nlm.nih.gov/19011903
https://pubmed.ncbi.nlm.nih.gov/19011903
Akademický článek
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Autor:
Daoud, Hussein, Gruchy, Nicolas, Constans, Jean-Marc, Moussaoui, Edgar, Saumureau, Simone, Bayou, Nadia, Amy, Maïté, Védrine, Sylviane, Phi Yen Vu, Rötig, Agnès, Laumonnier, Frédéric, Vourc'h, Patrick, Andres, Christian R., Leporrier, Nathalie, Briault, Sylvain
Publikováno v:
Human Genetics; Jan2009, Vol. 124 Issue 6, p649-658, 10p, 1 Black and White Photograph, 1 Diagram, 1 Chart, 2 Graphs