Detalhe da pesquisa
1.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
; 147(4): 1436-1456, 2024 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37951597
2.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
; 28(17): 2900-2919, 2019 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31127942
3.
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Hum Genet
; 140(4): 579-592, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33048237
4.
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Genet Med
; 23(6): 1158-1162, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33531666
5.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33875846
6.
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.
Ann Hum Genet
; 84(5): 370-379, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32401353
7.
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Genet Med
; 22(12): 2071-2080, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32741967
8.
PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.
Clin Genet
; 98(1): 80-85, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32286682
9.
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Clin Genet
; 97(3): 447-456, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31730227
10.
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Clin Genet
; 95(2): 310-319, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30561787
11.
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
J Inherit Metab Dis
; 42(1): 147-158, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30740741
12.
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
BMC Pediatr
; 19(1): 195, 2019 06 13.
Artigo
Inglês
| MEDLINE | ID: mdl-31196016
13.
A new association between CDK5RAP2 microcephaly and congenital cataracts.
Ann Hum Genet
; 82(3): 165-170, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29271474
14.
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
Genet Med
; 20(11): 1328-1333, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29565419
15.
Molecular autopsy in maternal-fetal medicine.
Genet Med
; 20(4): 420-427, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28749478
16.
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.
J Med Genet
; 54(4): 236-240, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28143899
17.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
; 29(5): 877-878, 2020 03 27.
Artigo
Inglês
| MEDLINE | ID: mdl-32027362
18.
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
J Paediatr Child Health
; 53(6): 585-591, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28337809
19.
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Am J Hum Genet
; 93(3): 471-81, 2013 Sep 05.
Artigo
Inglês
| MEDLINE | ID: mdl-23993193
20.
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Am J Hum Genet
; 91(3): 541-7, 2012 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-22958903