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Last Updated: 10/31/2025
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Found 2758 publications
Kidney-specific claudin-2 deficiency leads to medullary nephrocalcinosis in mice.
Journal: The Journal of clinical investigation
Published: October 09, 2025
Title Not Found
Journal: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
Published: September 26, 2025
Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes.
Journal: Turkish archives of pediatrics
Published: September 17, 2025
Persistent Hypercalcemia Despite Parathyroidectomy for Primary Hyperparathyroidism in an Adult with Nephrocalcinosis and Nephrolithiasis Caused by a Novel Combination of Two Pathogenic CYP24A1 Mutations.
Journal: International journal of molecular sciences
Published: August 20, 2025
Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.
Journal: International journal of molecular sciences
Published: August 01, 2025
WDR72 Gene Variant Associated With Distal Renal Tubular Acidosis, Enuresis, Enamel Hypoplasia, Renal Cysts, and Renal Calculi: A Case Report.
Journal: Cureus
Published: July 14, 2025
Factors Related to Decline of Renal Function in Patients with Chronic Hypoparathyroidism.
Journal: Journal of clinical medicine
Published: June 23, 2025
Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series.
Journal: Journal of clinical medicine
Published: June 15, 2025
Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome.
Journal: Frontiers in pediatrics
Published: June 02, 2025
Last Updated: 10/31/2025