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Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 5, p. 1513, doi. 10.1007/s00467-022-05732-w
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- Article
Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 10, p. 1906, doi. 10.1093/ndt/gfab285
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- Article
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 4, p. 687, doi. 10.1093/ndt/gfab019
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- Article
Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
- Published in:
- Nephrology Dialysis Transplantation, 2017, v. 32, n. 1, p. 151, doi. 10.1093/ndt/gfv453
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- Publication type:
- Article
Evidence of ongoing complement activation on adipose tissue from an 11‐year‐old girl with Barraquer–Simons syndrome.
- Published in:
- Journal of Dermatology, 2020, v. 47, n. 12, p. 1439, doi. 10.1111/1346-8138.15570
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- Article