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Alecia Willis

Showing results (1-10 of 13) with videos related to

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Amino Acids|June 6, 2008
PRODH variants and risk for schizophreniaAlecia Willis, Hans Uli Bender, Gary Steel, et al.
American Journal of Human Genetics|January 22, 2005
Functional consequences of PRODH missense mutationsHans-Ulrich Bender, Shlomo Almashanu, Gary Steel, et al.
Gene|March 13, 2012
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduriaMir Reza Bekheirnia, Wei Zhang, Tanya Eble, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2015
Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classificationWei Song, Sabrina A Gardner, Hayk Hovhannisyan, et al.
Human Mutation|December 2, 2010
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerationsJohannes Häberle, Oleg A Shchelochkov, Jing Wang, et al.
Molecular Genetics and Metabolism|March 31, 2004
Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase IMarshall L Summar, Lynn Hall, Brian Christman, et al.
Human Heredity|May 11, 2004
Multilocus analysis of hypertension: a hierarchical approachScott M Williams, Marylyn D Ritchie, John A Phillips, et al.
Molecular Cytogenetics|April 7, 2012
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disordersPatrícia Bs Celestino-Soper, Cindy Skinner, Richard Schroer, et al.
The New England Journal of Medicine|October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disordersYaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Human Mutation|June 5, 2010
Type I hyperprolinemia: genotype/phenotype correlationsAudrey Guilmatre, Solenn Legallic, Gary Steel, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Amino Acids|June 6, 2008
PRODH variants and risk for schizophreniaAlecia Willis, Hans Uli Bender, Gary Steel, et al.
American Journal of Human Genetics|January 22, 2005
Functional consequences of PRODH missense mutationsHans-Ulrich Bender, Shlomo Almashanu, Gary Steel, et al.
Gene|March 13, 2012
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduriaMir Reza Bekheirnia, Wei Zhang, Tanya Eble, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2015
Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classificationWei Song, Sabrina A Gardner, Hayk Hovhannisyan, et al.
Human Mutation|December 2, 2010
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerationsJohannes Häberle, Oleg A Shchelochkov, Jing Wang, et al.
Molecular Genetics and Metabolism|March 31, 2004
Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase IMarshall L Summar, Lynn Hall, Brian Christman, et al.
Human Heredity|May 11, 2004
Multilocus analysis of hypertension: a hierarchical approachScott M Williams, Marylyn D Ritchie, John A Phillips, et al.
Molecular Cytogenetics|April 7, 2012
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disordersPatrícia Bs Celestino-Soper, Cindy Skinner, Richard Schroer, et al.
The New England Journal of Medicine|October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disordersYaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Human Mutation|June 5, 2010
Type I hyperprolinemia: genotype/phenotype correlationsAudrey Guilmatre, Solenn Legallic, Gary Steel, et al.
Pageof 2