Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Benedicte Maisonneuve"'
Autor:
Lucie Levaillant, Natacha Bouhours-Nouet, Frédéric Illouz, Jessica Amsellem Jager, Anne Bachelot, Pascal Barat, Sabine Baron, Candace Bensignor, Aude Brac De La Perriere, Yasmine Braik Djellas, Morgane Caillot, Emmanuelle Caldagues, Marie-Neige Campas, Marylène Caquard, Audrey Cartault, Julie Cheignon, Anne Decrequy, Brigitte Delemer, Katherine Dieckmann, Aurélie Donzeau, Emilie Doye, Mélanie Fradin, Mélanie Gaudillière, Frédérique Gatelais, Magali Gorce, Isabelle Hazart, Nada Houcinat, Laure Houdon, Marielle Ister-Salome, Lucie Jozwiak, Patrick Jeannoel, Francois Labarthe, Didier Lacombe, Anne-Sophie Lambert, Christine Lefevre, Bruno Leheup, Clara Leroy, Benedicte Maisonneuve, Isis Marchand, Emeline Marquant, Matthias Muszlak, Letitia Pantalone, Sandra Pochelu, Chloé Quelin, Catherine Radet, Peggy Renoult-Pierre, Rachel Reynaud, Stéphanie Rouleau, Cécile Teinturier, Julien Thevenon, Caroline Turlotte, Aline Valle, Melody Vierge, Carine Villanueva, Alban Ziegler, Xavier Dieu, Nathalie Bouzamondo, Patrice Rodien, Delphine Prunier-Mirebeau, Régis Coutant
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism.
IntroductionCongenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between studies.