Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Manal Dayem-Quere"'
Autor:
Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C. Genin, Konstantina Fragaki, Catharina L.M. Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L.I. van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne De Saint-Martin, Marie-Thérèse Abi Warde, Monique G.M. de
Publikováno v:
The American Journal of Human Genetics
Autor:
Fabienne Giuliano, Christophe Massol, Letizia Crouzet-Ozenda, Kathy Wagner-Mahler, Jean-Claude Lambert, Houda Karmous-Benailly, Manal Dayem-Quere
Publikováno v:
American Journal of Medical Genetics Part A. 161:1547-1554
We report on the case of a young woman with a de novo 20p11.21p11.23 deletion, discovered by array-CGH. She has behavioral troubles with autistic traits, intellectual disability, panhypopituitarism, severe hypoglycemia, epilepsy, and scoliosis. The m
Autor:
Véronique Paquis-Flucklinger, Houda Karmous-Benailly, Fabienne Giuliano, Christophe Massol, Manal Dayem-Quere, Marjorie Piche
Publikováno v:
American journal of medical genetics. Part A. (8)