Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Pitelet, Gaëlle"'
Autor:
Joncquel-Chevalier Curt, Marie, Cheillan, David, Briand, Gilbert, Salomons, Gajja S., Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Des Portes, Vincent, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Tardieu, Marc, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph
Publikováno v:
In Molecular Genetics and Metabolism November 2013 110(3):263-267
Autor:
Cheillan David, Curt Marie Joncquel-Chevalier, Briand Gilbert, Salomons Gajja S, Mention-Mulliez Karine, Dobbelaere Dries, Cuisset Jean-Marie, Lion-François Laurence, Portes Vincent Des, Chabli Allel, Valayannopoulos Vassili, Benoist Jean-François, Pinard Jean-Marc, Simard Gilles, Douay Olivier, Deiva Kumaran, Afenjar Alexandra, Héron Delphine, Rivier François, Chabrol Brigitte, Prieur Fabienne, Cartault François, Pitelet Gaëlle, Goldenberg Alice, Bekri Soumeya, Gerard Marion, Delorme Richard, Tardieu Marc, Porchet Nicole, Vianey-Saban Christine, Vamecq Joseph
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 96 (2012)
Abstract A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) and creatine:creatinine ratios w
Externí odkaz:
https://doaj.org/article/e2ce112ecc654a17af27c0a14d4a6252
Autor:
Saillour, Yoann, Carion, Nathalie, Quelin, Chloe, Leger, Pierre-Louis, Boddaert, Nathalie, Elie, Caroline, Toutain, Annick, Mercier, Sandra, Barthez, Marie Anne, Milh, Mathieu, Joriot, Sylvie, Des Portes, Vincent, Philip, Nicole, Broglin, Dominique, ROUBERTIE, Agathe, Pitelet, Gaëlle, Moutard, Marie Laure, Pinard, Jean-Marc, Cancès, Clément, Cances, Claude, Kaminska, Anna, Chelly, Jamel, Beldjord, Chérif, Bahi-Buisson, Nadia
Publikováno v:
Archives of Neurology-Chigago
Archives of Neurology-Chigago-, American Medical Association, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩
Archives of Neurology-Chigago-, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩
Archives of Neurology-Chigago-, American Medical Association, 2009, 66 (8), pp.1007-1015. 〈10.1001/archneurol.2009.149〉
Archives of Neurology-Chigago-, American Medical Association, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩
Archives of Neurology-Chigago-, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩
Archives of Neurology-Chigago-, American Medical Association, 2009, 66 (8), pp.1007-1015. 〈10.1001/archneurol.2009.149〉
International audience; Objective: With the largest data set of patients with LIS1-related lissencephaly, the major cause of posteriorly predominant lissencephaly related to either LIS1 mutation or intragenic deletion, described so far, we aimed to r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30dbfc2c546e7bff1becf40bb91731cf
https://hal.archives-ouvertes.fr/hal-01104698/file/noc80134_1007_1015.pdf
https://hal.archives-ouvertes.fr/hal-01104698/file/noc80134_1007_1015.pdf
Autor:
Colombani, Marina, Chouchane, Mondher, Pitelet, Gaelle, Morales, Laure, Callier, Patrick, Pinard, Jean-Pierre, Lion-François, Laurence, Thauvin-Robinet, Christel, Mugneret, Francine, Huet, Frédéric, Guibaud, Laurent, Faivre, Laurence
Publikováno v:
In European Journal of Medical Genetics 2006 49(6):466-471