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Judith A Goodship

Showing results (21-30 of 57) with videos related to

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Clinical Journal of the American Society of Nephrology : CJASN|March 29, 2011
Primary, nonsyndromic vesicoureteric reflux and nephropathy in sibling pairs: a United Kingdom cohort for a DNA bankHeather J Lambert, Aisling Stewart, Ambrose M Gullett, et al.
Molecular Immunology|June 29, 2007
Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndromeDavid Kavanagh, Anna Richards, Marina Noris, et al.
Human Molecular Genetics|October 3, 2012
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary ciliaJose A Caparrós-Martín, María Valencia, Edel Reytor, et al.
Heart (British Cardiac Society)|April 2, 2010
22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresiaKlaartje van Engelen, Ana Topf, Bernard D Keavney, et al.
American Journal of Human Genetics|February 7, 2003
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndromeVictor L Ruiz-Perez, Stuart W J Tompson, Helen J Blair, et al.
Plos Genetics|March 21, 2007
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndromePeter F Zipfel, Matthew Edey, Stefan Heinen, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|July 23, 2013
Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomyValerie Wilson, Rebecca Darlay, William Wong, et al.
Journal of the American Society of Nephrology : JASN|December 5, 2009
Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric refluxHeather J Cordell, Rebecca Darlay, Pimphen Charoen, et al.
Human Mutation|January 26, 2012
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformationHuay L Tan, Elise Glen, Ana Töpf, et al.
Plos One|August 6, 2014
Functionally significant, rare transcription factor variants in tetralogy of FallotAna Töpf, Helen R Griffin, Elise Glen, et al.
Pageof 6

Showing results (21-30 of 57) with videos related to

Sort By:
Pageof 6
Clinical Journal of the American Society of Nephrology : CJASN|March 29, 2011
Primary, nonsyndromic vesicoureteric reflux and nephropathy in sibling pairs: a United Kingdom cohort for a DNA bankHeather J Lambert, Aisling Stewart, Ambrose M Gullett, et al.
Molecular Immunology|June 29, 2007
Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndromeDavid Kavanagh, Anna Richards, Marina Noris, et al.
Human Molecular Genetics|October 3, 2012
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary ciliaJose A Caparrós-Martín, María Valencia, Edel Reytor, et al.
Heart (British Cardiac Society)|April 2, 2010
22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresiaKlaartje van Engelen, Ana Topf, Bernard D Keavney, et al.
American Journal of Human Genetics|February 7, 2003
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndromeVictor L Ruiz-Perez, Stuart W J Tompson, Helen J Blair, et al.
Plos Genetics|March 21, 2007
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndromePeter F Zipfel, Matthew Edey, Stefan Heinen, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|July 23, 2013
Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomyValerie Wilson, Rebecca Darlay, William Wong, et al.
Journal of the American Society of Nephrology : JASN|December 5, 2009
Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric refluxHeather J Cordell, Rebecca Darlay, Pimphen Charoen, et al.
Human Mutation|January 26, 2012
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformationHuay L Tan, Elise Glen, Ana Töpf, et al.
Plos One|August 6, 2014
Functionally significant, rare transcription factor variants in tetralogy of FallotAna Töpf, Helen R Griffin, Elise Glen, et al.
Pageof 6