Detalhe da pesquisa
1.
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Eur J Hum Genet
; 31(11): 1251-1260, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37644171
2.
2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster.
Am J Med Genet A
; 158A(11): 2767-74, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23023937
3.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Neurol Genet
; 7(6): e613, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34790866