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Bruce Bennetts

Showing results (1-10 of 67) with videos related to

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Human Mutation|April 4, 2003
RettBASE: The IRSA MECP2 variation database-a new mutation database in evolutionJohn Christodoulou, Andrew Grimm, Tony Maher, et al.
The Southeast Asian Journal of Tropical Medicine and Public Health|May 24, 2005
Information overload--new technologies, can we store the data?Veronica Wiley, Kevin Carpenter, Bruce Bennetts, et al.
Human Mutation|December 26, 2003
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathyAndrew Biggin, Katherine Holman, Maggie Brett, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringZornitza Stark, Rebecca Storen, Bruce Bennetts, et al.
Molecular Genetics and Metabolism|January 11, 2005
Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatographyAndrew Biggin, Robert Henke, Bruce Bennetts, et al.
BMC Medical Genetics|July 29, 2006
An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in AustraliansMatthew J Bugeja, David Booth, Bruce Bennetts, et al.
American Journal of Medical Genetics. Part A|April 1, 2004
Ectopia lentis phenotypes and the FBN1 geneLesley C Adès, Katherine J Holman, Maggie S Brett, et al.
Translational Pediatrics|February 3, 2016
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyBenjamin M Nash, Dale C Wright, John R Grigg, et al.
Human Mutation|April 27, 2004
A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotypeSamantha L Ginn, Christine Smyth, Melanie Wong, et al.
Children (Basel, Switzerland)|November 27, 2024
Newborn Genomic Sequencing Needs Confirmation but Not RepeatingBruce Bennetts, Gladys Ho, Sarah Shin, et al.
Pageof 7

Showing results (1-10 of 67) with videos related to

Sort By:
Pageof 7
Human Mutation|April 4, 2003
RettBASE: The IRSA MECP2 variation database-a new mutation database in evolutionJohn Christodoulou, Andrew Grimm, Tony Maher, et al.
The Southeast Asian Journal of Tropical Medicine and Public Health|May 24, 2005
Information overload--new technologies, can we store the data?Veronica Wiley, Kevin Carpenter, Bruce Bennetts, et al.
Human Mutation|December 26, 2003
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathyAndrew Biggin, Katherine Holman, Maggie Brett, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringZornitza Stark, Rebecca Storen, Bruce Bennetts, et al.
Molecular Genetics and Metabolism|January 11, 2005
Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatographyAndrew Biggin, Robert Henke, Bruce Bennetts, et al.
BMC Medical Genetics|July 29, 2006
An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in AustraliansMatthew J Bugeja, David Booth, Bruce Bennetts, et al.
American Journal of Medical Genetics. Part A|April 1, 2004
Ectopia lentis phenotypes and the FBN1 geneLesley C Adès, Katherine J Holman, Maggie S Brett, et al.
Translational Pediatrics|February 3, 2016
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyBenjamin M Nash, Dale C Wright, John R Grigg, et al.
Human Mutation|April 27, 2004
A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotypeSamantha L Ginn, Christine Smyth, Melanie Wong, et al.
Children (Basel, Switzerland)|November 27, 2024
Newborn Genomic Sequencing Needs Confirmation but Not RepeatingBruce Bennetts, Gladys Ho, Sarah Shin, et al.
Pageof 7