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J Scheinman

Showing results (81-90 of 89) with videos related to

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Pediatric Nephrology (Berlin, Germany)|March 11, 2019
Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohortsLada Beara-Lasic, Andrea Cogal, Kristin Mara, et al.
Journal of the American Society of Nephrology : JASN|December 26, 2001
Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndromeAnthony G W Norden, Marta Lapsley, Takashi Igarashi, et al.
Kidney International|January 5, 2000
Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuriaS J Scheinman, J P Cox, S E Lloyd, et al.
Nature|February 1, 1996
A common molecular basis for three inherited kidney stone diseasesS E Lloyd, S H Pearce, S E Fisher, et al.
Nephron. Physiology|April 25, 2009
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variabilityAntony E Shrimpton, Richard R Hoopes, Stephen J Knohl, et al.
Clinical Journal of the American Society of Nephrology : CJASN|October 5, 2016
Glomerular Pathology in Dent Disease and Its Association with Kidney FunctionXiangling Wang, Franca Anglani, Lada Beara-Lasic, et al.
Clinical Journal of the American Society of Nephrology : CJASN|February 11, 2014
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1Anthony J Bleyer, Stanislav Kmoch, Corinne Antignac, et al.
Nature Genetics|February 12, 2013
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencingAndrew Kirby, Andreas Gnirke, David B Jaffe, et al.
Nephron. Physiology|February 26, 2013
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsGraciana Jaureguiberry, Muriel De la Dure-Molla, David Parry, et al.
Pageof 9

Showing results (81-90 of 89) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 89 results.
Pediatric Nephrology (Berlin, Germany)|March 11, 2019
Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohortsLada Beara-Lasic, Andrea Cogal, Kristin Mara, et al.
Journal of the American Society of Nephrology : JASN|December 26, 2001
Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndromeAnthony G W Norden, Marta Lapsley, Takashi Igarashi, et al.
Kidney International|January 5, 2000
Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuriaS J Scheinman, J P Cox, S E Lloyd, et al.
Nature|February 1, 1996
A common molecular basis for three inherited kidney stone diseasesS E Lloyd, S H Pearce, S E Fisher, et al.
Nephron. Physiology|April 25, 2009
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variabilityAntony E Shrimpton, Richard R Hoopes, Stephen J Knohl, et al.
Clinical Journal of the American Society of Nephrology : CJASN|October 5, 2016
Glomerular Pathology in Dent Disease and Its Association with Kidney FunctionXiangling Wang, Franca Anglani, Lada Beara-Lasic, et al.
Clinical Journal of the American Society of Nephrology : CJASN|February 11, 2014
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1Anthony J Bleyer, Stanislav Kmoch, Corinne Antignac, et al.
Nature Genetics|February 12, 2013
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencingAndrew Kirby, Andreas Gnirke, David B Jaffe, et al.
Nephron. Physiology|February 26, 2013
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsGraciana Jaureguiberry, Muriel De la Dure-Molla, David Parry, et al.
Pageof 9