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1.
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
Pediatr Nephrol
; 39(2): 455-461, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37670083
2.
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
Am J Med Genet A
; 191(5): 1355-1359, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36694287
3.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Genet Med
; 24(2): 307-318, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34906515
4.
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Am J Med Genet A
; 188(5): 1355-1367, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35040250
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