Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maël Richard"'
Autor:
Robin Jacquot, Maurine Jouret, Mathieu Gerfaud Valentin, Maël Richard, Yvan Jamilloux, Florent Rousset, Jean-François Emile, Julien Haroche, Lars Steinmüller, Franck Zekre, Alice Phan, Alexandre Belot, Pascal Seve
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
H syndrome is a rare autosomal recessive genetic disorder characterized by the following clinical features: cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, hy
Externí odkaz:
https://doaj.org/article/2cac38a4c3bb4e77afbf34368aeb7c5a
Autor:
Lucile Mianowski, Anne Doléans-Jordheim, Laurent Barraud, Muriel Rabilloud, Mael Richard, Raphaele Nove Josserand, Isabelle Durieu, Quitterie Reynaud
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract The triple combination elexacaftor-tezacaftor-ivacaftor (ETI) has provided unprecedented clinical benefits for people with cystic fibrosis (pwCF) and drastically transformed the outcome of this disease. We aimed to describe the evolution of
Externí odkaz:
https://doaj.org/article/ebaa7a84195c45cf966f9b052d1d364d
Publikováno v:
The Lancet. 401:1691
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::392b4320d3fe8c0107ace470d4e9c675
https://doi.org/10.1016/s0140-6736(23)00682-7
https://doi.org/10.1016/s0140-6736(23)00682-7