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1.
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.
Clin Genet
; 101(3): 346-358, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34964109
2.
A homozygous HOXA11 variation as a potential novel cause of autosomal recessive congenital anomalies of the kidney and urinary tract.
Clin Genet
; 98(4): 390-395, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32666543
3.
COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.
Pediatr Nephrol
; 35(10): 1941-1952, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32394188
4.
An immunohistochemical approach to detect oncogenic CTNNB1 mutations in primary neoplastic tissues.
Lab Invest
; 99(1): 128-137, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30177831
5.
Persistent hypoglycemic attacks during hemodialysis sessions in an infant with congenital nephrotic syndrome: Questions.
Pediatr Nephrol
; 34(1): 75-76, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29959530
6.
Persistent hypoglycemic attacks during hemodialysis sessions in an infant with congenital nephrotic syndrome: Answers.
Pediatr Nephrol
; 34(1): 77-79, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29959533
7.
The Clinical and Mutational Spectrum of 69 Turkish Children with Autosomal Recessive or Autosomal Dominant Polycystic Kidney Disease: A Multicenter Retrospective Cohort Study.
Nephron
; : 1-14, 2023 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36657418
8.
The outcomes of renin-angiotensin-aldosterone system inhibition and immunosuppressive therapy in children with X-linked Alport syndrome.
Turk J Pediatr
; 65(3): 456-468, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37395965
9.
Could plasma based therapies still be considered in selected cases with atypical hemolytic uremic syndrome?
Turk J Pediatr
; 63(6): 986-993, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35023648
10.
Long-term follow-up results of patients with ADCK4 mutations who have been diagnosed in the asymptomatic period: effects of early initiation of CoQ10 supplementation.
Turk J Pediatr
; 61(5): 657-663, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-32104996
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