Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Houda Hamdi-Roze"'
Autor:
L. Tom Vlasveld, Roel Janssen, Edouard Bardou-Jacquet, Hanka Venselaar, Houda Hamdi-Roze, Hal Drakesmith, Dorine W. Swinkels
Publikováno v:
Pharmaceuticals, Vol 12, Iss 3, p 132 (2019)
Iron overloading disorders linked to mutations in ferroportin have diverse phenotypes in vivo, and the effects of mutations on ferroportin in vitro range from loss of function (LOF) to gain of function (GOF) with hepcidin resistance. We reviewed 359
Externí odkaz:
https://doaj.org/article/272b1b18cc874fa695a4194c670e34d3
Autor:
Charlotte Mouden, Marie de Tayrac, Christèle Dubourg, Sophie Rose, Wilfrid Carré, Houda Hamdi-Rozé, Marie-Claude Babron, Linda Akloul, Bénédicte Héron-Longe, Sylvie Odent, Valérie Dupé, Régis Giet, Véronique David
Publikováno v:
PLoS ONE, Vol 10, Iss 2, p e0117418 (2015)
Holoprosencephaly (HPE) is a frequent congenital malformation of the brain characterized by impaired forebrain cleavage and midline facial anomalies. Heterozygous mutations in 14 genes have been identified in HPE patients that account for only 30% of
Externí odkaz:
https://doaj.org/article/64dc7400317b48858eaf50a81f960129