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David R FitzPatrick

Showing results (41-50 of 144) with videos related to

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Human Mutation|September 28, 2011
Enhancer-adoption as a mechanism of human developmental diseaseLaura A Lettice, Sarah Daniels, Elizabeth Sweeney, 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.
Molecular Genetics & Genomic Medicine|February 6, 2014
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single centerChristina Gerth-Kahlert, Kathleen Williamson, Morad Ansari, et al.
Nature Immunology|June 5, 2007
Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-gammaJamie R Schoenborn, Michael O Dorschner, Masayuki Sekimata, et al.
Genome Research|June 23, 2019
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutationsJoanna Kaplanis, Nadia Akawi, Giuseppe Gallone, et al.
Journal of Medical Genetics|October 22, 2009
Disruption of ST5 is associated with mental retardation and multiple congenital anomaliesIna Göhring, Andreas Tagariello, Sabine Endele, 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.
American Journal of Medical Genetics. Part A|October 3, 2008
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughtersAdele Schneider, Tanya M Bardakjian, Jie Zhou, et al.
Molecular Genetics & Genomic Medicine|July 22, 2016
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disabilityWayne W K Lam, John J Millichap, Dinesh C Soares, et al.
Human Mutation|September 9, 2014
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two familiesSofie Metsu, Jacqueline K Rainger, Kim Debacker, et al.
Pageof 15

Showing results (41-50 of 144) with videos related to

Sort By:
Pageof 15
Human Mutation|September 28, 2011
Enhancer-adoption as a mechanism of human developmental diseaseLaura A Lettice, Sarah Daniels, Elizabeth Sweeney, 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.
Molecular Genetics & Genomic Medicine|February 6, 2014
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single centerChristina Gerth-Kahlert, Kathleen Williamson, Morad Ansari, et al.
Nature Immunology|June 5, 2007
Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-gammaJamie R Schoenborn, Michael O Dorschner, Masayuki Sekimata, et al.
Genome Research|June 23, 2019
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutationsJoanna Kaplanis, Nadia Akawi, Giuseppe Gallone, et al.
Journal of Medical Genetics|October 22, 2009
Disruption of ST5 is associated with mental retardation and multiple congenital anomaliesIna Göhring, Andreas Tagariello, Sabine Endele, 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.
American Journal of Medical Genetics. Part A|October 3, 2008
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughtersAdele Schneider, Tanya M Bardakjian, Jie Zhou, et al.
Molecular Genetics & Genomic Medicine|July 22, 2016
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disabilityWayne W K Lam, John J Millichap, Dinesh C Soares, et al.
Human Mutation|September 9, 2014
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two familiesSofie Metsu, Jacqueline K Rainger, Kim Debacker, et al.
Pageof 15