Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jessica Assoumani"'
Autor:
Laurence Faivre, Varoona Bizaoui, Christèle Dubourg, Frédéric Tran Mau-Them, Wilfrid Carré, Amélie Piton, Sylvie Odent, Lionel Van Maldergem, Ange-Line Bruel, Laurent Pasquier, Marie Faoucher, Bénédicte Gérard, Mélanie Fradin, Alinoë Lavillaureix, Auriane Cospain, Florence Demurger, Jessica Assoumani, Elise Schaefer
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 99 (5), pp.732-739. ⟨10.1111/cge.13933⟩
European Journal of Human Genetics
European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.256-256
Clinical Genetics, 2021, 99 (5), pp.732-739. ⟨10.1111/cge.13933⟩
Clinical Genetics, Wiley, 2021, 99 (5), pp.732-739. ⟨10.1111/cge.13933⟩
European Journal of Human Genetics
European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.256-256
Clinical Genetics, 2021, 99 (5), pp.732-739. ⟨10.1111/cge.13933⟩
International audience; Skraban-Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment,
Autor:
Jessica Assoumani, Morgane Plutino, Caroline Benech, Nathalie Marle, Houda Karmous-Benailly, Elise Boudry Labis, Sylvia Redon, Lionel Van Maldergem, Hala Nasser, Nathalie Couque, Myriam Rachid, Anne-Claude Tabet, Bérénice Schell, Aafke Engwerda, Mélanie Rama, Odile Boute, Céline Dupont, Conny M. A. van Ravenswaaij-Arts, Patrick Callier, Lyse Ruaud, Jonathan I. Levy, Paul Kuentz, Alain Verloes, Laurence Faivre
Publikováno v:
Clinical Genetics
Clinical Genetics, 2021, 100 (4), pp.396-404. ⟨10.1111/cge.14017⟩
Clinical Genetics. Wiley
Clinical Genetics, 2021, 100 (4), pp.396-404. ⟨10.1111/cge.14017⟩
Clinical Genetics. Wiley
International audience; Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for membe
Autor:
Odile Boute, Lyse Ruaud, Aafke Engwerda, Anne-Claude Tabet, Lionel Van Maldergem, Patrick Callier, Bérénice Schell, Céline Dupont, Jessica Assoumani, Caroline Benech, Nathalie Marle, Nathalie Couque, Houda Karmous-Benailly, Jonathan Levy, Elise Boudry Labis, Mélanie Rama, Alain Verloes, Sylvia Redon, Myriam Rachid, Conny M. A. Ravenswaaij‐Arts, Laurence Faivre, Morgane Plutino, Paul Kuentz, Hala Nasser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1b963ac1a0a8b3e691b08b6f668fe6
https://doi.org/10.1111/cge.14017/v3/response1
https://doi.org/10.1111/cge.14017/v3/response1
Autor:
Laurent Pasquier, Marie Faoucher, Sylvie Odent, Ange-Line Bruel, Alinoë Lavillaureix, Elise Schaefer, Varoona Bizaoui, Lionel Van Maldergem, Frédéric Tran Mau-Them, Bénédicte Gérard, Jessica Assoumani, Mélanie Fradin, C Dubourg, Laurence Faivre, Amélie Piton, Wilfrid Carré, Florence Demurger, Auriane Cospain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd94c7d5b845e91aef766065329b0fd9
https://doi.org/10.1111/cge.13933/v2/response1
https://doi.org/10.1111/cge.13933/v2/response1