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.
Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development.
J Pers Med
; 13(7)2023 Jul 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37511771
3.
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
4.
Equidad en salud pediátrica: Análisis del Impacto Clínico del Proceso de Diagnóstico de Enfermedades Monogénicas por técnicas de Secuenciación Masiva (NGS) y de su costo-efectividad / Equity in pediatric health: Analysis of the Clinical Impact of the Diagnostic Process of Monogenic Diseases by Massive Sequencing (NGS) techniques and its cost-effectiveness
Ciudad Autónoma de Buenos Aires; Ministerio de Salud de la Nación. Dirección de Investigación en Salud; 2021. 1 p.
Não convencional
Espanhol
| ARGMSAL, BINACIS | ID: biblio-1435396
5.
Biología molecular aplicada al diagnóstico de genodermatosis, dando respuestas al diagnóstico de enfermedades poco frecuentes / Molecular biology applied to the diagnosis of genodermatosis, giving answers to the diagnosis of rare diseases
Ciudad Autónoma de Buenos Aires; Argentina. Ministerio de Salud de la Nación. Dirección de Investigación en Salud; 2018. 1-13 p. tab.
Não convencional
Espanhol
| ARGMSAL, BINACIS | ID: biblio-1392578