Detalhe da pesquisa
1.
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Front Genet
; 15: 1354715, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38528912
2.
Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report.
Front Pediatr
; 10: 887658, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35722485
3.
AplicacioÌn de HibridacioÌn In Situ Fluorescente (FISH) en pacientes con sospecha cliÌnica de SiÌndrome de DelecioÌn 22q11. 2 (SD22q11. 2) / Applying Fluorescent in situ hy-bridiza on (FISH) in patients with suspected clinical signs of 22q11. 2 dele on syndrome (DS22q11. 2)
Rev. Hosp. Niños B.Aires
; 61(272): 9-17, abr. 2019.
Artigo
Espanhol
| LILACS | ID: biblio-995556