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1.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
J Med Genet
; 59(10): 993-1001, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-34952832
2.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33875846
3.
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
Clin Genet
; 99(2): 303-308, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33131077
4.
Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.
Genome Med
; 14(1): 132, 2022 11 23.
Article
in English
| MEDLINE | ID: mdl-36419110
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