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1.
Exome Sequencing Identifies the Extremely Rare ITGAV and FN1 Variants in Early Onset Inflammatory Bowel Disease Patients.
Front Pediatr
; 10: 895074, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35692981
2.
Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.
Front Med (Lausanne)
; 8: 694668, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34249980
3.
Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.
Saudi J Biol Sci
; 27(1): 271-278, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31889847
4.
Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease.
Saudi J Biol Sci
; 27(6): 1494-1502, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32489286
5.
Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.
Saudi J Biol Sci
; 27(1): 324-334, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31889854
6.
In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.
J Comput Biol
; 25(2): 170-181, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29172679
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