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Judith A Goodship

Showing results (41-50 of 57) with videos related to

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Human Molecular Genetics|April 25, 2015
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the ciliumJosé A Caparrós-Martín, Alessandro De Luca, François Cartault, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T Wilson, Zornitza Stark, Ruth E Sutton, et al.
Circulation. Cardiovascular Genetics|April 17, 2012
A common variant in the PTPN11 gene contributes to the risk of tetralogy of FallotJudith A Goodship, Darroch Hall, Ana Topf, et al.
Nature Genetics|July 23, 2003
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determinationEdgar A Otto, Bernhard Schermer, Tomoko Obara, et al.
Nature Genetics|July 16, 2008
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57Deborah J G Mackay, Jonathan L A Callaway, Sophie M Marks, et al.
Plos One|March 25, 2009
Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformationHelen R Griffin, Darroch H Hall, Ana Topf, et al.
Nature Communications|August 19, 2015
Association analysis identifies new risk loci for congenital heart disease in Chinese populationsYuan Lin, Xuejiang Guo, Bijun Zhao, et al.
Human Molecular Genetics|December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsRachel Soemedi, Ana Topf, Ian J Wilson, et al.
Kidney International|June 18, 2004
Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneitySongshan Jiang, Jordan Gitlin, Fang-Ming Deng, et al.
American Journal of Human Genetics|September 4, 2012
Contribution of global rare copy-number variants to the risk of sporadic congenital heart diseaseRachel Soemedi, Ian J Wilson, Jamie Bentham, et al.
Pageof 6

Showing results (41-50 of 57) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|April 25, 2015
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the ciliumJosé A Caparrós-Martín, Alessandro De Luca, François Cartault, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T Wilson, Zornitza Stark, Ruth E Sutton, et al.
Circulation. Cardiovascular Genetics|April 17, 2012
A common variant in the PTPN11 gene contributes to the risk of tetralogy of FallotJudith A Goodship, Darroch Hall, Ana Topf, et al.
Nature Genetics|July 23, 2003
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determinationEdgar A Otto, Bernhard Schermer, Tomoko Obara, et al.
Nature Genetics|July 16, 2008
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57Deborah J G Mackay, Jonathan L A Callaway, Sophie M Marks, et al.
Plos One|March 25, 2009
Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformationHelen R Griffin, Darroch H Hall, Ana Topf, et al.
Nature Communications|August 19, 2015
Association analysis identifies new risk loci for congenital heart disease in Chinese populationsYuan Lin, Xuejiang Guo, Bijun Zhao, et al.
Human Molecular Genetics|December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsRachel Soemedi, Ana Topf, Ian J Wilson, et al.
Kidney International|June 18, 2004
Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneitySongshan Jiang, Jordan Gitlin, Fang-Ming Deng, et al.
American Journal of Human Genetics|September 4, 2012
Contribution of global rare copy-number variants to the risk of sporadic congenital heart diseaseRachel Soemedi, Ian J Wilson, Jamie Bentham, et al.
Pageof 6