Detalles de la búsqueda
1.
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Am J Med Genet A
; 194(4): e63498, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38129970
2.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain
; 144(3): 769-780, 2021 04 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33764426
3.
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).
BMC Neurol
; 20(1): 207, 2020 May 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-32450808
4.
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Am J Hum Genet
; 93(4): 721-6, 2013 Oct 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24075186
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38410982
6.
A novel X-linked disorder with developmental delay and autistic features.
Ann Neurol
; 71(4): 498-508, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22213401
7.
Clinical and biochemical features associated with BCS1L mutation.
J Inherit Metab Dis
; 36(5): 813-20, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22991165
8.
Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways.
Genomics
; 97(1): 19-28, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-20934504
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36778911
10.
Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and Pathways.
J Clin Med
; 11(23)2022 Nov 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-36498516
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36923948
12.
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Cells
; 11(19)2022 10 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36231115
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35052432
14.
SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
JIMD Rep
; 60(1): 75-87, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-34258143
15.
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
Neuromuscul Disord
; 30(7): 611-615, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32616363
16.
Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Mol Cytogenet
; 11: 9, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29416564
17.
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.
Gene
; 526(2): 464-6, 2013 Sep 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-23685283
18.
Age-specific gene expression signatures for breast tumors and cross-species conserved potential cancer progression markers in young women.
PLoS One
; 8(5): e63204, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23704896
19.
Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.
Brain Dev
; 34(5): 400-4, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21893389
20.
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.
Eur J Med Genet
; 51(6): 558-65, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-18790721
Resultados
1 -
20
de 20
1
Próxima >
>>