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Rachel Soemedi

Showing results (11-20 of 16) with videos related to

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Neurology|August 27, 2013
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathyOzge Ceyhan-Birsoy, Pankaj B Agrawal, Carlos Hidalgo, 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.
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.
Human Molecular Genetics|January 9, 2013
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of FallotHeather J Cordell, Ana Töpf, Chrysovalanto Mamasoula, et al.
Nature Genetics|May 28, 2013
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16Heather J Cordell, Jamie Bentham, Ana Topf, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Neurology|August 27, 2013
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathyOzge Ceyhan-Birsoy, Pankaj B Agrawal, Carlos Hidalgo, 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.
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.
Human Molecular Genetics|January 9, 2013
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of FallotHeather J Cordell, Ana Töpf, Chrysovalanto Mamasoula, et al.
Nature Genetics|May 28, 2013
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16Heather J Cordell, Jamie Bentham, Ana Topf, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Pageof 2