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Human Genetics|October 27, 2010
Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21Sian E Piret, Patrick Danoy, Karin Dahan, et al.Hepatology (Baltimore, Md.)|March 11, 2011
A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesisPeggy Raynaud, Joshua Tate, Céline Callens, et al.Journal of the American Society of Nephrology : JASN|May 24, 2014
Improving mutation screening in familial hematuric nephropathies through next generation sequencingVincent Morinière, Karin Dahan, Pascale Hilbert, et al.Clinical Journal of the American Society of Nephrology : CJASN|April 24, 2023
Epidemiology, Outcomes, and Complement Gene Variants in Secondary Thrombotic MicroangiopathiesAlexis Werion, Pauline Storms, Ysaline Zizi, et al.Journal of the American Society of Nephrology : JASN|October 22, 2003
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulinKarin Dahan, Olivier Devuyst, Michèle Smaers, et al.Journal of Nephrology|October 16, 2025
Clinical and genetic characteristics of patients diagnosed with atypical hemolytic uremic syndrome (aHUS): epidemiological data from the Belgian cohort of the Global aHUS RegistryAnnick Massart, Laurent Weekers, Kathleen J Claes, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 14, 2015
Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemiaJeroen H F de Baaij, Eiske M Dorresteijn, Eric A M Hennekam, et al.Human Mutation|November 14, 2008
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1Wenke Seifert, Muriel Holder-Espinasse, Jirko Kühnisch, et al.Kidney International|November 2, 2019
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adultsMarguerite Hureaux, Emma Ashton, Karin Dahan, et al.Neuro-Oncology Advances|July 10, 2020
Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortiumLéa Guerrini-Rousseau, Pascale Varlet, Chrystelle Colas, et al.Pageof 8