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Journal of Medical Genetics|January 11, 2015
Evidence of digenic inheritance in Alport syndromeMaria Antonietta Mencarelli, Laurence Heidet, Helen Storey, et al.Kidney International|February 6, 2018
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathiesEmma J Ashton, Anne Legrand, Valerie Benoit, et al.Human Mutation|November 15, 2013
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrumKarim Bouchireb, Olivia Boyer, Olivier Gribouval, et al.Journal of the American Society of Nephrology : JASN|March 19, 2011
Spectrum of mutations in Gitelman syndromeRosa Vargas-Poussou, Karin Dahan, Diana Kahila, et al.Journal of the American Society of Nephrology : JASN|September 30, 2003
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" studyJean Philippe Jais, Bertrand Knebelmann, Iannis Giatras, et al.Carcinogenesis|October 6, 2017
Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia familiesAnne-Laure Renault, Noura Mebirouk, Eve Cavaciuti, et al.Kidney International|May 26, 2020
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1Eric Olinger, Patrick Hofmann, Kendrah Kidd, et al.Journal of Medical Genetics|September 9, 2019
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriersMaribel González-Acosta, Fátima Marín, Benjamin Puliafito, et al.Human Mutation|February 12, 2019
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytesRichard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, et al.Journal of the American Society of Nephrology : JASN|October 5, 2021
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and CardiomyopathyKarl P Schlingmann, François Jouret, Kuang Shen, et al.Pageof 8