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Kidney Research and Clinical Practice|November 16, 2021
Hereditary kidney diseases associated with hypomagnesemiaFelix Claverie-Martin, Ana Perdomo-Ramirez, Victor Garcia-Nieto
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.
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.
Anales De Pediatria (Barcelona, Spain : 2003)|December 17, 2015
[Unilateral renal agenesis. New arguments about the genetic relationship between kidney malformations and urolithiasis]Victor Garcia Nieto, Beatriz Huertes Díaz, Joaquin Escribano Subias, 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.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 3, 2005
Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkageMatthias T F Wolf, Isabella Zalewski, Félix Claverie Martin, et al.
Journal of Pediatric Genetics|September 15, 2016
Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 geneElena Ramos-Trujillo, Felix Claverie-Martin, Victor Garcia-Nieto, et al.
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