Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Isabelle Hazart"'
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.
Autor:
Christine M. Eng, Thomas Besnard, Ingo Helbig, Holger Lerche, Bülent Kara, H. Hjalgrim, Peter-Michael Kloetzel, Mahmoud Y. Issa, Frédéric Ebstein, Isabelle Hazart, M. Cecilia Ljungberg, Eric LeGuern, Yaping Yang, Jill A. Rosenfeld, Rikke S. Møller, Alicia Braxton, Lindsay C. Burrage, Sarah Weckhuysen, Felix Rosenow, Peter De Jonghe, Johannes R. Lemke, Hiltrud Muhle, Elizabeth Roeder, Mary E. Dickinson, Nina Barišić, Bassam Abu-Libdeh, Federico Zara, Sara Wells, Carla Marini, Jennifer L. Silhavy, Marcus J. Miller, Maha S. Zaki, Bertrand Isidor, Teresa Santiago-Sim, LaDonna Immken, Andrea Lehmann, Joseph G. Gleeson, Karl Martin Klein, Mari Tokita, A Suls, Honey Nagakura, Rudi Balling, Rosa Guerrero-López, Katalin Sterbova, Benjamin Cogné, John R. Seavitt, Pasquale Striano, Maher Shahrour, Stéphanie Baulac, Renzo Guerrini, Sara Johnson, Lydia Teboul, Stéphane Bézieau, Kiely N. James, Katia Hardies, Orly Elpeleg, Dana Craiu, Jason D. Heaney, Sébastien Küry, Yvonne G. Weber, Zaid Afawi, Weimin Bi, Rebecca O. Littlejohn, Patrick May, Jose Serratosa, Magdalena Walkiewicz, Johanna A. Jähn
Publikováno v:
The American journal of human genetics
EuroEPINOMICS RES Consortium Autosomal Recessive working group & Møller, R S 2017, ' Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features ', American Journal of Human Genetics, vol. 100, no. 4, pp. 676-688 . https://doi.org/10.1016/j.ajhg.2017.03.001
EuroEPINOMICS RES Consortium Autosomal Recessive working group & Møller, R S 2017, ' Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features ', American Journal of Human Genetics, vol. 100, no. 4, pp. 676-688 . https://doi.org/10.1016/j.ajhg.2017.03.001
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the p
Publikováno v:
Archives de Pédiatrie. 21:964
Introduction Les enfants adoptes a l’etranger sont susceptibles de developper ou d’etre porteurs de maladies infectieuses. L’objectif principal de ce travail est de determiner la frequence et les caracteristiques des infections (bacteriennes, v