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Kathleen A Williamson

Showing results (1-10 of 29) with videos related to

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European Journal of Medical Genetics|May 27, 2014
The genetic architecture of microphthalmia, anophthalmia and colobomaKathleen A Williamson, David R FitzPatrick
Human Molecular Genetics|May 17, 2002
PAX6 in sensory developmentVeronica van Heyningen, Kathleen A Williamson
Human Genetics|September 23, 2018
The genetic architecture of aniridia and Gillespie syndromeHildegard Nikki Hall, Kathleen A Williamson, David R FitzPatrick
Investigative Ophthalmology & Visual Science|February 17, 2009
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutationsMelanie Hingorani, Kathleen A Williamson, Anthony T Moore, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridiaDavid O Robinson, Rachel J Howarth, Kathleen A Williamson, et al.
American Journal of Medical Genetics. Part A|July 19, 2016
Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutationsKathleen M Gorman, Sally A Lynch, Adele Schneider, et al.
BMC Pediatrics|September 26, 2018
Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular featuresDaham De Silva, Kathleen A Williamson, Kavinda Chandimal Dayasiri, et al.
Neuroimage|December 20, 2003
Quantitative MR image analysis in subjects with defects in the PAX6 geneSamantha L Free, Tejal N Mitchell, Kathleen A Williamson, et al.
Molecular Vision|December 4, 2009
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunctionRobert H Henderson, Kathleen A Williamson, Joanna S Kennedy, et al.
Archives of Pediatrics & Adolescent Medicine|May 9, 2007
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutationsDoris-Eva Bamiou, Samantha L Free, Sanjay M Sisodiya, et al.
Pageof 3

Showing results (1-10 of 29) with videos related to

Sort By:
Pageof 3
European Journal of Medical Genetics|May 27, 2014
The genetic architecture of microphthalmia, anophthalmia and colobomaKathleen A Williamson, David R FitzPatrick
Human Molecular Genetics|May 17, 2002
PAX6 in sensory developmentVeronica van Heyningen, Kathleen A Williamson
Human Genetics|September 23, 2018
The genetic architecture of aniridia and Gillespie syndromeHildegard Nikki Hall, Kathleen A Williamson, David R FitzPatrick
Investigative Ophthalmology & Visual Science|February 17, 2009
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutationsMelanie Hingorani, Kathleen A Williamson, Anthony T Moore, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridiaDavid O Robinson, Rachel J Howarth, Kathleen A Williamson, et al.
American Journal of Medical Genetics. Part A|July 19, 2016
Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutationsKathleen M Gorman, Sally A Lynch, Adele Schneider, et al.
BMC Pediatrics|September 26, 2018
Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular featuresDaham De Silva, Kathleen A Williamson, Kavinda Chandimal Dayasiri, et al.
Neuroimage|December 20, 2003
Quantitative MR image analysis in subjects with defects in the PAX6 geneSamantha L Free, Tejal N Mitchell, Kathleen A Williamson, et al.
Molecular Vision|December 4, 2009
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunctionRobert H Henderson, Kathleen A Williamson, Joanna S Kennedy, et al.
Archives of Pediatrics & Adolescent Medicine|May 9, 2007
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutationsDoris-Eva Bamiou, Samantha L Free, Sanjay M Sisodiya, et al.
Pageof 3