Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
International Journal of Molecular Sciences|September 13, 2025
Identification of a Novel Homozygous <i>SLC34A1</i> Missense Mutation and a Heterozygous <i>SLC34A3</i> Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and HypercalcemiaGlorián Mura-Escorche, Leire C García-Suarez, Isis Lebredo-Álvarez, et al.
BMC Medical Genetics|January 10, 2019
Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterationsAna Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, et al.
Nucleosides, Nucleotides & Nucleic Acids|December 2, 2016
Prevalence of URAT1 allelic variants in the Roma populationBlanka Stiburkova, Dana Gabrikova, Pavel Čepek, et al.
World Journal of Pediatrics : WJP|November 21, 2014
Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosisErnesto Martin-Nuñez, Elizabeth Cordoba-Lanus, Hilaria Gonzalez-Acosta, et al.
Intractable & Rare Diseases Research|November 3, 2020
Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndromeAna Perdomo-Ramirez, Montserrat Antón-Gamero, Daniela Sakaguchi Rizzo, et al.
American Journal of Human Genetics|November 25, 2003
A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargetingDominik Müller, P Jaya Kausalya, Felix Claverie-Martin, et al.
Molecular Genetics & Genomic Medicine|September 2, 2020
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosisAlejandro García-Castaño, Ana Perdomo-Ramirez, Mònica Vall-Palomar, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 15, 2003
Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's diseaseIrma Carballo-Trujillo, Victor Garcia-Nieto, Francisco J Moya-Angeler, et al.
International Journal of Molecular Sciences|May 13, 2023
Pathogenic Variants of <i>SLC22A12</i> (URAT1) and <i>SLC2A9</i> (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of <i>SLC2A9</i> Variant c.374C>T; p.(T125M)Ana Perdomo-Ramirez, Elizabeth Cordoba-Lanus, Carmen Jane Trujillo-Frias, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 29, 2002
Epithelial Ca(2+) channel (ECAC1) in autosomal dominant idiopathic hypercalciuriaDominik Müller, Joost G J Hoenderop, Rudi Vennekens, et al.
Pageof 3