Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Clinical Kidney Journal|November 28, 2015
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristicsFelix Claverie-Martin
Kidney Research and Clinical Practice|November 16, 2021
Hereditary kidney diseases associated with hypomagnesemiaFelix Claverie-Martin, Ana Perdomo-Ramirez, Victor Garcia-Nieto
Gene|June 8, 2014
Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic diseaseFrancisco J Gonzalez-Paredes, Elena Ramos-Trujillo, Felix Claverie-Martin
RNA Biology|March 12, 2015
Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney diseaseFelix Claverie-Martin, Francisco J Gonzalez-Paredes, Elena Ramos-Trujillo
Gene|December 23, 2015
Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene systemFrancisco J Gonzalez-Paredes, Elena Ramos-Trujillo, Felix Claverie-Martin
Biomedical Reports|September 23, 2020
Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case reportSoledad Carinelli, Olalla Alvarez Blanco, Ana Perdomo-Ramirez, et al.
Genes|January 5, 2018
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 DiseaseLorena Suarez-Artiles, Ana Perdomo-Ramirez, Elena Ramos-Trujillo, et al.
Intractable & Rare Diseases Research|March 19, 2019
Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndromeFelix Claverie-Martin, Amelia Trindade, Noriela C Garcia-Gonzalez, et al.
Human Genetics|October 22, 2003
De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's diseaseFelix Claverie-Martin, Hilaria González-Acosta, Carlos Flores, et al.
Gene|December 22, 2018
Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosisAna Perdomo-Ramirez, Mireia Aguirre, Tinatin Davitaia, et al.
Pageof 3