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Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 3, p. 687, doi. 10.1007/s00467-022-05627-w
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- Article
Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 3, p. 302, doi. 10.1002/ajmg.c.32009
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- Article
Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1430, doi. 10.1093/hmg/ddab321
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- Article
Nephronophthisis due to a novel DCDC2 variant in a patient from African‐Caribbean descent: A case report.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 527, doi. 10.1002/ajmg.a.61440
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- Article
Characterization of the renal phenotype in RMND1‐related mitochondrial disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.973
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- Article