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

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

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

di 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
Pubblicato in J Clin Endocrinol Metab (2016)