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M Burkitt

Showing results (51-60 of 56) with videos related to

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Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 22, 2013
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germlineEleni Giannoulatou, Gilean McVean, Indira B Taylor, et al.
American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.
Human Molecular Genetics|April 8, 2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisElisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, et al.
American Journal of Human Genetics|January 2, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848Magdalena Koczkowska, Yunjia Chen, Tom Callens, et al.
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Showing results (51-60 of 56) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 56 results.
Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Pierpont syndrome: a collaborative studyEmma M M Burkitt Wright, Mohnish Suri, Susan M White, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 22, 2013
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germlineEleni Giannoulatou, Gilean McVean, Indira B Taylor, et al.
American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.
Human Molecular Genetics|April 8, 2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisElisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, et al.
American Journal of Human Genetics|January 2, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848Magdalena Koczkowska, Yunjia Chen, Tom Callens, et al.
Pageof 6