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Sandra C Doelken

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

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Disease Models & Mechanisms|October 30, 2012
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafishSandra C Doelken, Sebastian Köhler, Christopher J Mungall, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeLuitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, et al.
Genome Research|September 3, 2013
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutationsDaniel M Ibrahim, Peter Hansen, Christian Rödelsperger, et al.
Journal of Medical Genetics|December 8, 2011
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashionEva Klopocki, Silke Lohan, Sandra C Doelken, et al.
Human Mutation|February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome ProjectWilliam S Oetting, Peter N Robinson, Marc S Greenblatt, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, 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.
Disease Models & Mechanisms|October 30, 2012
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafishSandra C Doelken, Sebastian Köhler, Christopher J Mungall, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeLuitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, et al.
Genome Research|September 3, 2013
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutationsDaniel M Ibrahim, Peter Hansen, Christian Rödelsperger, et al.
Journal of Medical Genetics|December 8, 2011
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashionEva Klopocki, Silke Lohan, Sandra C Doelken, et al.
Human Mutation|February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome ProjectWilliam S Oetting, Peter N Robinson, Marc S Greenblatt, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
Pageof 2