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Yoshimi Nozu

Showing results (1-10 of 23) with videos related to

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Clinical Nephrology|June 4, 2013
Different phenotypes of HNF1ß deletion mutants in familial multicystic dysplastic kidneysMasafumi Hasui, Kazunari Kaneko, Shoji Tsuji, et al.
Pediatrics|May 4, 2011
Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutationYuko Shima, Kandai Nozu, Yoshimi Nozu, et al.
Pediatric Nephrology (Berlin, Germany)|October 3, 2008
Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosisHajime Yamazaki, Kandai Nozu, Ichiei Narita, et al.
Pediatric Research|August 12, 2009
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndromeKandai Nozu, Kazumoto Iijima, Yoshimi Nozu, et al.
Clinical and Experimental Nephrology|November 20, 2015
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 geneXue Jun Fu, Kandai Nozu, Aya Eguchi, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 12, 2008
Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndromeRafal Przybyslaw Krol, Kandai Nozu, Koichi Nakanishi, et al.
Human Genetics|June 11, 2009
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutationKandai Nozu, Kazumoto Iijima, Kazuo Kawai, et al.
Pediatric Nephrology (Berlin, Germany)|June 28, 2008
Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patientsKandai Nozu, Rafal Przybyslaw Krol, Yasufumi Ohtsuka, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
A birth of bipartite exon by intragenic deletionKandai Nozu, Kazumoto Iijima, Toru Igarashi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2015
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristicsNatsuki Matsunoshita, Kandai Nozu, Akemi Shono, et al.
Pageof 3

Showing results (1-10 of 23) with videos related to

Sort By:
Pageof 3
Clinical Nephrology|June 4, 2013
Different phenotypes of HNF1ß deletion mutants in familial multicystic dysplastic kidneysMasafumi Hasui, Kazunari Kaneko, Shoji Tsuji, et al.
Pediatrics|May 4, 2011
Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutationYuko Shima, Kandai Nozu, Yoshimi Nozu, et al.
Pediatric Nephrology (Berlin, Germany)|October 3, 2008
Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosisHajime Yamazaki, Kandai Nozu, Ichiei Narita, et al.
Pediatric Research|August 12, 2009
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndromeKandai Nozu, Kazumoto Iijima, Yoshimi Nozu, et al.
Clinical and Experimental Nephrology|November 20, 2015
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 geneXue Jun Fu, Kandai Nozu, Aya Eguchi, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 12, 2008
Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndromeRafal Przybyslaw Krol, Kandai Nozu, Koichi Nakanishi, et al.
Human Genetics|June 11, 2009
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutationKandai Nozu, Kazumoto Iijima, Kazuo Kawai, et al.
Pediatric Nephrology (Berlin, Germany)|June 28, 2008
Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patientsKandai Nozu, Rafal Przybyslaw Krol, Yasufumi Ohtsuka, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
A birth of bipartite exon by intragenic deletionKandai Nozu, Kazumoto Iijima, Toru Igarashi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2015
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristicsNatsuki Matsunoshita, Kandai Nozu, Akemi Shono, et al.
Pageof 3