Detalhe da pesquisa
1.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Hum Mol Genet
; 33(4): 355-373, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37944084
2.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
3.
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Am J Med Genet A
; 173(5): 1390-1395, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371217
4.
Diagnostic Yield of Epilepsy-Genes Sequencing and Chromosomal Microarray in Pediatric Epilepsy.
Pediatr Neurol
; 150: 50-56, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979304
5.
Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.
Pediatr Neurol
; 114: 55-59, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33221597
6.
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Cold Spring Harb Mol Case Stud
; 5(2)2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30755392