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1.
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.
Am J Hum Genet
; 110(9): 1470-1481, 2023 09 07.
Article
in English
| MEDLINE | ID: mdl-37582359
2.
Autozygome and high throughput confirmation of disease genes candidacy.
Genet Med
; 21(3): 736-742, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30237576
3.
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Clin Genet
; 95(2): 310-319, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30561787
4.
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
Hum Mutat
; 39(4): 461-470, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29282788
5.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Hum Genet
; 136(8): 921-939, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28600779
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