Found: 12
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Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 10, p. 1701, doi. 10.1007/s00467-018-3958-7
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- Article
Genetics-first approach improves diagnostics of ESKD patients <50 years old.
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- Nephrology Dialysis Transplantation, 2022, v. 37, n. 2, p. 349, doi. 10.1093/ndt/gfaa363
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- Article
Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux.
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- Pediatric Nephrology, 2007, v. 22, n. 8, p. 1129, doi. 10.1007/s00467-007-0492-4
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- Article
Identification of human D lactate dehydrogenase deficiency.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09458-6
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- Article
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05191-8
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- Article
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 3, p. 358, doi. 10.1002/ajmg.c.31995
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- Article
Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients.
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- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0031327
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- Article
Is joint hypermobility associated with vesico-ureteral reflux? An assessment of 50 patients.
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- BJU International, 2012, v. 109, n. 8, p. 1243, doi. 10.1111/j.1464-410X.2011.10469.x
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- Article
Gain of glycosylation in integrin a3 causes lung disease and nephrotic syndrome.
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- Journal of Clinical Investigation, 2012, v. 122, n. 12, p. 4375, doi. 10.1172/JCI64100
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- Article
Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.
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- Nephron, 2024, v. 148, n. 8, p. 569, doi. 10.1159/000538037
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- Article
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-57061-7
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- Article
Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct Patterning.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0147171
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- Article