Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life

Autor Çizmecioğlu, Filiz Mine, Jones, Jeremy Huw, Paterson, Wendy Forsyth, Kherra, Sakina, Kourime, Mariam, McGowan, Ruth, Shaikh, M. Guftar, Donaldson, Malcolm
Vydáno v J Clin Res Pediatr Endocrinol (2018)

Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation

Autor Bernard, Valérie, Kherra, Sakina, Francou, Bruno, Fagart, Jérôme, Viengchareun, Say, Guéchot, Jérôme, Ladjouze, Asmahane, Guiochon-Mantel, Anne, Korach, Kenneth S., Binart, Nadine, Lombès, Marc, Christin-Maitre, Sophie
Vydáno v J Clin Endocrinol Metab (2016)