Detalhe da pesquisa
1.
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Am J Hum Genet
; 105(3): 640-657, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31402090
2.
Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling.
Prog Neurobiol
; 200: 101985, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33388374
3.
Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl.
Am J Med Genet A
; 149A(6): 1249-52, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19449433
4.
A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.
PLoS One
; 9(9): e106982, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25184293