Detalhe da pesquisa
1.
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Am J Med Genet A
; 194(4): e63498, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129970
2.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119330
3.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989426
4.
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
Clin Dysmorphol
; 33(2): 55-62, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38410982
5.
Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome.
Front Genet
; 13: 1044936, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778911
6.
Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.
Genes (Basel)
; 13(12)2022 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553519
7.
Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
Front Pediatr
; 10: 1051534, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36923948
8.
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Cells
; 11(19)2022 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36231115
9.
Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.
Genes (Basel)
; 12(11)2021 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828389
10.
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
Genes (Basel)
; 13(1)2021 12 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052432
11.
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.
Genet Test Mol Biomarkers
; 25(12): 757-764, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918981