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.
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
3.
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
4.
Autozygome and high throughput confirmation of disease genes candidacy.
Genet Med;
21(3): 736-742, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30237576
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.
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Hum Genet;
134(9): 967-80, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26077850
8.
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.
JIMD Rep;
43: 79-83, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29721912
9.
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
Orphanet J Rare Dis;
14(1): 209, 2019 08 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31455396
10.
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
Cold Spring Harb Mol Case Stud;
1(1): a000455, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27148570
11.
Clinical genetics and genomic medicine in Qatar.
Mol Genet Genomic Med;
6(5): 702-712, 2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30264509
12.
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
Am J Med Genet A;
128A(1): 39-45, 2004 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15211654