Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Boddaert, Natalie"'
Autor:
Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Quintero-Castro, Diana Lucia, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail E., Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Natalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja Kristine, Urreizti, R, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bonnemann, Carsten, Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan
Publikováno v:
Kour, Sukhleen Rajan, Deepa S. Fortuna, Tyler R. Anderson, Eric N. Ward, Caroline Lee, Youngha Lee, Sangmoon Shin, Yong Beom Chae, Jong-Hee Choi, Murim Siquier, Karine Cantagrel, Vincent Amiel, Jeanne Stolerman, Elliot S. Barnett, Sarah S. Cousin, Margot A. Quintero-Castro, Diana Lucia McDonald, Kimberly Kirmse, Brian Nemeth, Andrea H. Rajasundaram, Dhivyaa Innes, A. Micheil Lynch, Danielle Frosk, Patrick Collins, Abigail E. Gibbons, Melissa Yang, Michele Desguerre, Isabelle Boddaert, Natalie Gitiaux, Cyril Rydning, Siri Lynne Selmer, Kaja Kristine Urreizti, R Garcia-Oguiza, Alberto Osorio, Andrés Nascimento Verdura, Edgard Pujol, Aurora McCurry, Hannah R. Landers, John E. Agnihotri, Sameer Andriescu, E. Corina Moody, Shade B. Phornphutkul, Chanika Sacoto, Maria J. Guillen Begtrup, Amber Houlden, Henry Kirschner, Janbernd Schorling, David Rudnik-Schöneborn, Sabine Strom, Tim M. Leiz, Steffen Juliette, Kali Richardson, Randal Yang, Ying Zhang, Yuehua Wang, Minghui Wang, Jia Wang, Xiaodong Platzer, Konrad Donkervoort, Sandra Bonnemann, Carsten Wagner, Matias Issa, Mahmoud Y. Elbendary, Hasnaa M. Stanley, Valentina Maroofian, Reza Gleeson, Joseph G. Zaki, Maha S. Senderek, Jan Pandey, Udai Bhan . Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications. 2021, 12(1), 1-15
Nature Communications
Nature Communications
Autor:
Neven, Bénédicte, Al Adba, Buthaina, Hully, Marie, Desguerre, Isabelle, Pressiat, Claire, Boddaert, Natalie, Duffy, Darragh, Bondi, Vincent, Rice, Gillian I., Seabra, Luis, Frémond, Marie-Louise, Blanche, Stéphane, Crow, Yanick
Publikováno v:
New England Journal of Medicine
New England Journal of Medicine, 2020, 383 (22), pp.2190-2193. ⟨10.1056/NEJMc2031081⟩
Neven, B, Al Adba, B, Hully, M, Desguerre, I, Pressiat, C, Boddaert, N, Duffy, D, Bondi, V, Rice, G I, Seabra, L, Frémond, M-L, Blanche, S & Crow, Y 2020, ' JAK Inhibition in the Aicardi-Goutières Syndrome ', New England Journal of Medicine . https://doi.org/10.1056/NEJMc2031081
New England Journal of Medicine, Massachusetts Medical Society, 2020, 383 (22), pp.2190-2193. ⟨10.1056/NEJMc2031081⟩
New England Journal of Medicine, 2020, 383 (22), pp.2190-2193. ⟨10.1056/NEJMc2031081⟩
Neven, B, Al Adba, B, Hully, M, Desguerre, I, Pressiat, C, Boddaert, N, Duffy, D, Bondi, V, Rice, G I, Seabra, L, Frémond, M-L, Blanche, S & Crow, Y 2020, ' JAK Inhibition in the Aicardi-Goutières Syndrome ', New England Journal of Medicine . https://doi.org/10.1056/NEJMc2031081
New England Journal of Medicine, Massachusetts Medical Society, 2020, 383 (22), pp.2190-2193. ⟨10.1056/NEJMc2031081⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d18be3eb22a997e8f60497db0ced1451
https://hal-pasteur.archives-ouvertes.fr/pasteur-03155975/document
https://hal-pasteur.archives-ouvertes.fr/pasteur-03155975/document
Akademický článek
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Autor:
Neven B; Hôpital Necker-Enfants Malades, Paris, France benedicte.neven@aphp.fr., Al Adba B; Sidra Medicine, Doha, Qatar., Hully M; Hôpital Necker-Enfants Malades, Paris, France., Desguerre I; Hôpital Necker-Enfants Malades, Paris, France., Pressiat C; Hôpitaux Universitaires Henri Mondor, Creteil, France., Boddaert N; Hôpital Necker-Enfants Malades, Paris, France., Duffy D; Institut Pasteur, Paris, France., Rice GI; University of Manchester, Manchester, United Kingdom., Seabra L; Institut Imagine, Paris, France., Frémond ML; Institut Imagine, Paris, France., Blanche S; Hôpital Necker-Enfants Malades, Paris, France., Crow YJ; University of Edinburgh, Edinburgh, United Kingdom.
Publikováno v:
The New England journal of medicine [N Engl J Med] 2020 Nov 26; Vol. 383 (22), pp. 2190-2191.