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C Gubler

Showing results (161-170 of 195) with videos related to

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Advances in Nephrology From the Necker Hospital|January 1, 1993
Genetic, clinical, and morphologic heterogeneity in Alport's syndromeM C Gubler, C Antignac, G Deschênes, et al.
Genomics|December 10, 1995
A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2qM Konrad, S Saunier, F Silbermann, et al.
Nature Genetics|March 31, 2000
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndromeN Boute, O Gribouval, S Roselli, et al.
Nephron|January 1, 1982
A new form of familial glomerulonephritisO Kourilsky, M C Gubler, L Morel-Maroger, et al.
American Journal of Human Genetics|July 1, 1992
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragmentsB Knebelmann, G Deschenes, F Gros, et al.
Human Molecular Genetics|March 1, 1996
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisisM Konrad, S Saunier, L Heidet, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|February 15, 2001
Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetusesF Daïkha-Dahmane, M Dommergues, F Narcy, et al.
The American Journal of Pathology|March 21, 1998
Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagusL Heidet, E Boye, Y Cai, et al.
Kidney International|February 22, 2008
A missense mutation in podocin leads to early and severe renal disease in miceA Philippe, S Weber, E L Esquivel, et al.
Genomics|July 15, 1994
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneityM Medhioub, D Cherif, F Benessy, et al.
Pageof 20

Showing results (161-170 of 195) with videos related to

Sort By:
Pageof 20
Advances in Nephrology From the Necker Hospital|January 1, 1993
Genetic, clinical, and morphologic heterogeneity in Alport's syndromeM C Gubler, C Antignac, G Deschênes, et al.
Genomics|December 10, 1995
A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2qM Konrad, S Saunier, F Silbermann, et al.
Nature Genetics|March 31, 2000
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndromeN Boute, O Gribouval, S Roselli, et al.
Nephron|January 1, 1982
A new form of familial glomerulonephritisO Kourilsky, M C Gubler, L Morel-Maroger, et al.
American Journal of Human Genetics|July 1, 1992
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragmentsB Knebelmann, G Deschenes, F Gros, et al.
Human Molecular Genetics|March 1, 1996
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisisM Konrad, S Saunier, L Heidet, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|February 15, 2001
Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetusesF Daïkha-Dahmane, M Dommergues, F Narcy, et al.
The American Journal of Pathology|March 21, 1998
Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagusL Heidet, E Boye, Y Cai, et al.
Kidney International|February 22, 2008
A missense mutation in podocin leads to early and severe renal disease in miceA Philippe, S Weber, E L Esquivel, et al.
Genomics|July 15, 1994
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneityM Medhioub, D Cherif, F Benessy, et al.
Pageof 20