Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Eléonore Eymard-Pierre"'
Autor:
Stephan Kemeny, Florence Brugnon, Eléonore Eymard-Pierre, Carole Goumy, Laurent Janny, Andreï Tchirkov, Christine Francannet, Philippe Vago, Céline Pebrel-Richard
Publikováno v:
Asian Journal of Andrology, Vol 19, Iss 1, Pp 135-137 (2017)
Externí odkaz:
https://doaj.org/article/847bb0d9f0c94a2ab5bf441535e82510
Autor:
Laetitia Gouas, Nooshin Omar, Gaëlle Salaun, Sophie Besse, Eléonore Eymard-Pierre, Céline Pebrel-Richard, Carole Goumy, Philippe Vago
Publikováno v:
Morphologie. 106:S10-S11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a01100190342be38a72f7d508c4db3ab
https://doi.org/10.1016/j.morpho.2022.06.013
https://doi.org/10.1016/j.morpho.2022.06.013
Autor:
Carole Goumy, Zangbéwendé Guy Ouedraogo, Elodie Bellemonte, Eleonore Eymard-Pierre, Gwendoline Soler, Isabelle Perthus, Céline Pebrel-Richard, Laetitia Gouas, Gaëlle Salaun, Lauren Véronèse, Hélène Laurichesse, Claude Darcha, Andrei Tchirkov
Publikováno v:
Diagnostics, Vol 13, Iss 23, p 3576 (2023)
Optical genome mapping (OGM) is an alternative to classical cytogenetic techniques to improve the detection rate of clinically significant genomic abnormalities. The isolation of high-molecular-weight (HMW) DNA is critical for a successful OGM analys
Externí odkaz:
https://doaj.org/article/1f9051c7cfc94d40ab7e9c4e7b697bb5
Autor:
Carole, Goumy, Mathilde, Gay-Bellile, Eléonore, Eymard-Pierre, Stephan, Kemeny, Laetitia, Gouas, Pierre, Déchelotte, Denis, Gallot, Lauren, Véronèse, Andrei, Tchirkov, Céline, Pebrel-Richard, Philippe, Vago
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 100(6)
Interstitial 2q36 deletion is a rare event. Only two previously published cases of 2q36 deletions were characterized using array-CGH. This is the first case diagnosed prenatally.We report on the prenatal diagnosis of a 2q36.1q36.3 interstitial deleti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e661fefb4e68b99011542c79790ea441
https://pubmed.ncbi.nlm.nih.gov/24753315
https://pubmed.ncbi.nlm.nih.gov/24753315
Autor:
Patricia, Combes, Vincent, Planche, Eléonore, Eymard-Pierre, Catherine, Sarret, Diana, Rodriguez, Odile, Boespflug-Tanguy, Catherine, Vaurs-Barriere
Publikováno v:
Annals of human genetics. 76(3)
The SRY-BOX17 gene (SOX17) encodes a transcription factor playing a key role in different developmental processes including endoderm formation, cardiac myogenesis, kidney/urinary development and differentiation of oligodendrocytes, the brain myelinat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6eb1b9ddf44a040f7880775122d578d9
https://pubmed.ncbi.nlm.nih.gov/22348788
https://pubmed.ncbi.nlm.nih.gov/22348788