Detalhe da pesquisa
1.
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Genet Med
; : 101169, 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38785164
2.
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Clin Genet
; 105(5): 523-532, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38247296
3.
Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.
Am J Med Genet A
; 194(3): e63471, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37961033
4.
SPARKing New Insight Into Autism Across the Lifespan.
Am J Intellect Dev Disabil
; 129(2): 91-95, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411241