Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

por Andrade, Nathalia Liberatoscioli Menezes, Funari, Mariana Ferreira de Assis, Malaquias, Alexsandra Christianne, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia L R A, Scalco, Renata, Dantas, Naiara Castelo Branco, Rezende, Raissa C, Tiburcio, Angelica M F P, Souza, Micheline A R, Freire, Bruna L, Krepischi, Ana C V, Longui, Carlos Alberto, Lerario, Antonio Marcondes, Arnhold, Ivo J P, Jorge, Alexander A L, Vasques, Gabriela Andrade
Publicado 2022

Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty

por Duckett, Katie, Williamson, Alice, Kincaid, John W R, Rainbow, Kara, Corbin, Laura J, Martin, Hilary C, Eberhardt, Ruth Y, Huang, Qin Qin, Hurles, Matthew E, He, Wen, Brauner, Raja, Delaney, Angela, Dunkel, Leo, Grinspon, Romina P, Hall, Janet E, Hirschhorn, Joel N, Howard, Sasha R, Latronico, Ana C, Jorge, Alexander A L, McElreavey, Ken, Mericq, Verónica, Merino, Paulina M, Palmert, Mark R, Plummer, Lacey, Rey, Rodolfo A, Rezende, Raíssa C, Seminara, Stephanie B, Salnikov, Kathryn, Banerjee, Indraneel, Lam, Brian Y H, Perry, John R B, Timpson, Nicholas J, Clayton, Peter, Chan, Yee-Ming, Ong, Ken K, O’Rahilly, Stephen
Publicado 2023