Detalhe da pesquisa
1.
A review of genetic variant databases and machine learning tools for predicting the pathogenicity of breast cancer.
Brief Bioinform
; 25(1)2023 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38149678
2.
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.
Clin Genet
; 101(4): 403-410, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34988996
3.
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances ß-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.
Hum Genet
; 139(5): 657-673, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219518
4.
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Hum Mutat
; 40(3): 267-280, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30520571
5.
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.
Mol Genet Metab
; 124(2): 161-167, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29685658
6.
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Mol Genet Metab
; 124(2): 124-130, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735374
7.
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Am J Med Genet A
; 173(2): 460-470, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27860360
8.
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
J Inherit Metab Dis
; 38(5): 905-14, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25868664
9.
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.
BMC Neurol
; 15: 205, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471939
10.
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
Eur J Pediatr
; 174(5): 661-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388407
11.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Hum Mutat
; 35(10): 1203-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044680
12.
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.
Front Pharmacol
; 15: 1335058, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38414738
13.
Spectrum of genetic variants in bilateral sensorineural hearing loss.
Front Genet
; 15: 1314535, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38410152
14.
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.
Front Pediatr
; 11: 1183574, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37502193
15.
Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum.
Front Genet
; 14: 1219514, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37576556
16.
Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling.
Biomedicines
; 11(12)2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137438
17.
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Orphanet J Rare Dis
; 18(1): 344, 2023 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924129
18.
A review of SARS-CoV-2 drug repurposing: databases and machine learning models.
Front Pharmacol
; 14: 1182465, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37601065
19.
Artificial intelligence and database for NGS-based diagnosis in rare disease.
Front Genet
; 14: 1258083, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38371307
20.
A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene.
J Mol Neurosci
; 72(6): 1322-1333, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35316504