Found: 12
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Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.
- Published in:
- 2011
- By:
- Publication type:
- journal article
A novel modified penile disassembly procedure for isolated male epispadias repair: preliminary outcomes.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1371576
- By:
- Publication type:
- Article
Twenty-eight-year review of childhood renal diseases from renal biopsy data: A single centre in China.
- Published in:
- Nephrology, 2016, v. 21, n. 12, p. 1003, doi. 10.1111/nep.12702
- By:
- Publication type:
- Article
High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.
- Published in:
- Nephrology, 2016, v. 21, n. 3, p. 209, doi. 10.1111/nep.12563
- By:
- Publication type:
- Article
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior- Løken syndrome.
- Published in:
- Nephrology, 2013, v. 18, n. 12, p. 838, doi. 10.1111/nep.12156
- By:
- Publication type:
- Article
Novel Mutation of OCRL1 in Lowe Syndrome.
- Published in:
- Indian Journal of Pediatrics, 2015, v. 82, n. 1, p. 89, doi. 10.1007/s12098-014-1581-6
- By:
- Publication type:
- Article
Reducing GEF-H1 Expression Inhibits Renal Cyst Formation, Inflammation, and Fibrosis via RhoA Signaling in Nephronophthisis.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3504, doi. 10.3390/ijms24043504
- By:
- Publication type:
- Article
Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.
- Published in:
- Nephrology Dialysis Transplantation, 2010, v. 25, n. 5, p. 1697, doi. 10.1093/ndt/gfq071
- By:
- Publication type:
- Article
Transplantation for infantile nephronophthisis with loss‐of‐function mutation in NPHP3: Lesson from a case.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Nphp1 knockout mouse model targeting exon 2–20 demonstrates characteristic phenotypes of human nephronophthisis.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 2, p. 232, doi. 10.1093/hmg/ddab239
- By:
- Publication type:
- Article
The Accumulation of VEGFA in the Glomerular Basement Membrane and Its Relationship with Podocyte Injury and Proteinuria in Alport Syndrome.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135648
- By:
- Publication type:
- Article
Clinical Features of Children with Pulmonary Microscopic Polyangiitis: Report of 9 Cases.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0124352
- By:
- Publication type:
- Article