Detalhe da pesquisa
1.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130591
2.
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
3.
Gene therapy for spinal muscular atrophy: the Qatari experience.
Gene Ther
; 28(10-11): 676-680, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34276047
4.
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
Am J Med Genet A
; 182(11): 2570-2580, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32856792
5.
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
6.
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.
J Inherit Metab Dis
; 42(5): 818-830, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968424
7.
Molecular autopsy in maternal-fetal medicine.
Genet Med
; 20(4): 420-427, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28749478
8.
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Sci Rep
; 14(1): 4202, 2024 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38378725
9.
Clinical genetics and genomic medicine in Qatar.
Mol Genet Genomic Med
; 6(5): 702-712, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30264509