Search details
1.
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease.
Kidney Int
; 104(5): 975-984, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37414395
2.
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.
Pediatr Nephrol
; 38(6): 1793-1800, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36357634
3.
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
J Am Soc Nephrol
; 33(2): 305-325, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34607911
4.
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
J Am Soc Nephrol
; 32(9): 2273-2290, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34400539
5.
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
J Am Soc Nephrol
; 31(2): 365-373, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31919107
6.
Using genomics to understand severe COVID-19.
Nephrol Dial Transplant
; 2023 Dec 11.
Article
in English
| MEDLINE | ID: mdl-38081206
7.
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
BMC Med Genet
; 18(1): 79, 2017 07 26.
Article
in English
| MEDLINE | ID: mdl-28747166
8.
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Sci Rep
; 12(1): 2722, 2022 02 17.
Article
in English
| MEDLINE | ID: mdl-35177655
9.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Nat Commun
; 13(1): 4840, 2022 08 17.
Article
in English
| MEDLINE | ID: mdl-35977952
10.
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
Elife
; 112022 09 20.
Article
in English
| MEDLINE | ID: mdl-36124557
11.
Genetics of renovascular hypertension in children.
J Hypertens
; 38(10): 1964-1970, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32890272
Results
1 -
11
de 11
1
Next >
>>