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David R Fitzpatrick

Showing results (41-50 of 153) with videos related to

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American Journal of Medical Genetics. Part A|April 21, 2017
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with ageJoanna Moss, Jessica Penhallow, Morad Ansari, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 26, 2003
Single-cell perforin and granzyme expression reveals the anatomical localization of effector CD8+ T cells in influenza virus-infected miceBarbara J Johnson, Elaine O Costelloe, David R Fitzpatrick, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|December 21, 2016
Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe-EUROCRAN StudyPeter A Mossey, Julian Little, Regine Steegers-Theunissen, et al.
Molecular Systems Biology|June 7, 2024
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variantsAlexander F McDonnell, Marcin Plech, Benjamin J Livesey, et al.
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.
Pageof 16

Showing results (41-50 of 153) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|April 21, 2017
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with ageJoanna Moss, Jessica Penhallow, Morad Ansari, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 26, 2003
Single-cell perforin and granzyme expression reveals the anatomical localization of effector CD8+ T cells in influenza virus-infected miceBarbara J Johnson, Elaine O Costelloe, David R Fitzpatrick, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|December 21, 2016
Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe-EUROCRAN StudyPeter A Mossey, Julian Little, Regine Steegers-Theunissen, et al.
Molecular Systems Biology|June 7, 2024
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variantsAlexander F McDonnell, Marcin Plech, Benjamin J Livesey, et al.
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.
Pageof 16