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1.
Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.
Medicina (Kaunas)
; 59(3)2023 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-36984475
2.
Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women.
Biomedicines
; 12(4)2024 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38672141
3.
Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.
Brain Dev
; 42(8): 587-593, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32402540
4.
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Sci Rep
; 10(1): 12377, 2020 07 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-32704157
5.
KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption.
Sci Rep
; 9(1): 16469, 2019 11 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31712638
6.
Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.
Congenit Anom (Kyoto)
; 58(1): 10-15, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-28419563
7.
Identification of a class of human cancer germline genes with transcriptional silencing refractory to the hypomethylating drug 5-aza-2'-deoxycytidine.
Oncoscience
; 1(11): 745-50, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25594001
8.
Meta-analysis of clinical data using human meiotic genes identifies a novel cohort of highly restricted cancer-specific marker genes.
Oncotarget
; 3(8): 843-53, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22918178
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