Detalhe da pesquisa
1.
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain
; 146(4): 1373-1387, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200388
2.
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Am J Hum Genet
; 104(1): 179-185, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595371
3.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854