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C Antignac

Showing results (91-100 of 103) with videos related to

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Scientific Reports|March 9, 2021
Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutationsF C Tilley, C Arrondel, C Chhuon, et al.
Kidney International|March 7, 2008
A novel renal carbonic anhydrase type III plays a role in proximal tubule dysfunctionP Gailly, F Jouret, D Martin, et al.
Kidney International|October 24, 2000
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutationF T van der Loop, L Heidet, E D Timmer, et al.
Scientific Reports|October 12, 2023
Dietary supplementation of cystinotic mice by lysine inhibits the megalin pathway and decreases kidney cystine contentL R Rega, V Janssens, J H Graversen, et al.
European Journal of Human Genetics : EJHG|November 28, 2000
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicismJ Amiel, S Audollent, D Joly, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|June 22, 2000
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31M Vollmer, N Jeck, H H Lemmink, et al.
Journal of Medical Genetics|June 11, 2009
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)E A Otto, K Tory, M Attanasio, et al.
Kidney International|September 12, 1998
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domainH H Lemmink, N V Knoers, L Károlyi, et al.
Journal of the American Society of Nephrology : JASN|October 17, 1998
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotypeY Ala, D Morin, B Mouillac, et al.
Kidney International|October 26, 2007
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisisM T F Wolf, S Saunier, J F O'Toole, et al.
Pageof 11

Showing results (91-100 of 103) with videos related to

Sort By:
Pageof 11
Scientific Reports|March 9, 2021
Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutationsF C Tilley, C Arrondel, C Chhuon, et al.
Kidney International|March 7, 2008
A novel renal carbonic anhydrase type III plays a role in proximal tubule dysfunctionP Gailly, F Jouret, D Martin, et al.
Kidney International|October 24, 2000
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutationF T van der Loop, L Heidet, E D Timmer, et al.
Scientific Reports|October 12, 2023
Dietary supplementation of cystinotic mice by lysine inhibits the megalin pathway and decreases kidney cystine contentL R Rega, V Janssens, J H Graversen, et al.
European Journal of Human Genetics : EJHG|November 28, 2000
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicismJ Amiel, S Audollent, D Joly, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|June 22, 2000
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31M Vollmer, N Jeck, H H Lemmink, et al.
Journal of Medical Genetics|June 11, 2009
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)E A Otto, K Tory, M Attanasio, et al.
Kidney International|September 12, 1998
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domainH H Lemmink, N V Knoers, L Károlyi, et al.
Journal of the American Society of Nephrology : JASN|October 17, 1998
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotypeY Ala, D Morin, B Mouillac, et al.
Kidney International|October 26, 2007
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisisM T F Wolf, S Saunier, J F O'Toole, et al.
Pageof 11