Detalhe da pesquisa
1.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int
; 105(4): 844-864, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154558
2.
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Clin Genet
; 105(4): 406-414, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214412
3.
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
Eur J Hum Genet
; 31(6): 674-680, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36922632
4.
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
medRxiv
; 2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993625
5.
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
Front Pediatr
; 10: 974840, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245711
6.
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.
Front Med (Lausanne)
; 9: 957733, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36117978
7.
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.
Front Med (Lausanne)
; 9: 953643, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341250