Detalhe da pesquisa
1.
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Clin Genet
; 94(6): 495-501, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30125339
2.
Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.
Eur J Med Genet
; 65(12): 104640, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243336
3.
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Sci Rep
; 12(1): 18862, 2022 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36344539
4.
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
Eur J Med Genet
; 62(11): 103583, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30472485