Zobrazeno 1 - 2
of 2
pro vyhledávání: '"camille lemattre"'
Autor:
Julien Thevenon, David Geneviève, Laurence Faivre, C. F. Wells, Yannis Duffourd, camille lemattre, B. Vuadelle, Sophie Nambot, Marjolaine Willems, Paul Kuentz, Emmanuelle Haquet, Pierre Sarda, Ange-Line Bruel
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (12), pp.2813-2818. ⟨10.1002/ajmg.a.40510⟩
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (12), pp.2813-2818. ⟨10.1002/ajmg.a.40510⟩
IF 2.264; International audience; Pierpont syndrome is a rare and sporadic syndrome, including developmental delay, facial characteristics, and abnormal extremities. Recently, a recurrent de novo TBL1XR1 variant (c.1337A > G; p.Tyr446Cys) has been id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b744bea957b6454babf43e0b242520
https://doi.org/10.1002/ajmg.a.40510
https://doi.org/10.1002/ajmg.a.40510
Autor:
Pierre Rustin, Emilie Carme, camille lemattre, Yannis Duffourd, Vincent Meyer, Patricia Blanchet, François Rivier, Jean-Baptiste Rivière, Anne Boland, Thomas Guignard, Paule Bénit, Emmanuelle Haquet, Julien Thevenon, Elodie Sanchez, David Geneviève, Marion Imbert-Bouteille, Jean-François Deleuze, Doris Lechner, Agathe Roubertie, Frédéric Tran Mau-Them, Constance Wells, Florence Molinari, Vincent Gatinois
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
European Journal of Human Genetics, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
Eur J Hum Genet
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
European Journal of Human Genetics, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩
Eur J Hum Genet
International audience; Early infantile epileptic encephalopathy (EIEE) is a heterogeneous group of severe forms of age-related developmental and epileptic encephalopathies with onset during the first weeks or months of life. The interictal electroen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::857005df474d670ce35cd16284e2772d
https://hal.archives-ouvertes.fr/hal-02180849/document
https://hal.archives-ouvertes.fr/hal-02180849/document
