A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome

by El Husny, Antonette Souto, Raiol-Moraes, Milene, Fernandes-Caldato, Milena Coelho, Ribeiro-dos-Santos, Ândrea
Published 2014

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

by Pereira, Fernanda dos Santos, Matte, Ursula, Habekost, Clarissa Troller, de Castilhos, Raphael Machado, El Husny, Antonette Souto, Lourenço, Charles Marques, Vianna-Morgante, Angela M., Giuliani, Liane, Galera, Marcial Francis, Honjo, Rachel, Kim, Chong Ae, Politei, Juan, Vargas, Carmen Regla, Jardim, Laura Bannach
Published 2012