Detalhe da pesquisa
1.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Clin Genet
; 105(6): 620-629, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356149
2.
Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.
Clin Genet
; 104(2): 238-244, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055917
3.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Brain
; 145(6): 1916-1923, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202461
4.
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Genet Med
; 23(12): 2455-2460, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34385670
5.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Genome Med
; 15(1): 102, 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38031187