Detalhe da pesquisa
1.
Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Am J Med Genet A
; 188(1): 116-129, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34590781
2.
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Am J Med Genet A
; 179(6): 927-935, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30919572