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Isabel M Hanson

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

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Pediatric Research|October 17, 2003
PAX6 and congenital eye malformationsIsabel M Hanson
BMC Genetics|August 16, 2005
A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11Simon T Cooper, Isabel M Hanson
BMC Genetics|May 28, 2005
PAX6 mutations: genotype-phenotype correlationsIoanna Tzoulaki, Ian M S White, Isabel M Hanson
Molecular Vision|June 6, 2003
A novel PAX6 gene mutation in an Indian aniridia patientGuruswamy Neethirajan, Isabel M Hanson, Subbiah Ramasamy Krishnadas, et al.
European Journal of Human Genetics : EJHG|April 5, 2007
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridiaR Alex Henderson, Kathy Williamson, Sally Cumming, et al.
Annals of Neurology|May 6, 2003
Polymicrogyria and absence of pineal gland due to PAX6 mutationTejal N Mitchell, Samantha L Free, Kathleen A Williamson, et al.
Human Mutation|September 27, 2002
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 geneMichèle M Sale, Jamie E Craig, Jacinta C Charlesworth, et al.
American Journal of Human Genetics|April 23, 2005
Heterozygous mutations of OTX2 cause severe ocular malformationsNicola K Ragge, Alison G Brown, Charlotte M Poloschek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
Pageof 1

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

Sort By:
Pageof 1
Pediatric Research|October 17, 2003
PAX6 and congenital eye malformationsIsabel M Hanson
BMC Genetics|August 16, 2005
A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11Simon T Cooper, Isabel M Hanson
BMC Genetics|May 28, 2005
PAX6 mutations: genotype-phenotype correlationsIoanna Tzoulaki, Ian M S White, Isabel M Hanson
Molecular Vision|June 6, 2003
A novel PAX6 gene mutation in an Indian aniridia patientGuruswamy Neethirajan, Isabel M Hanson, Subbiah Ramasamy Krishnadas, et al.
European Journal of Human Genetics : EJHG|April 5, 2007
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridiaR Alex Henderson, Kathy Williamson, Sally Cumming, et al.
Annals of Neurology|May 6, 2003
Polymicrogyria and absence of pineal gland due to PAX6 mutationTejal N Mitchell, Samantha L Free, Kathleen A Williamson, et al.
Human Mutation|September 27, 2002
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 geneMichèle M Sale, Jamie E Craig, Jacinta C Charlesworth, et al.
American Journal of Human Genetics|April 23, 2005
Heterozygous mutations of OTX2 cause severe ocular malformationsNicola K Ragge, Alison G Brown, Charlotte M Poloschek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
Pageof 1