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David R FitzPatrick

Showing results (71-80 of 144) with videos related to

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JAMA Ophthalmology|May 31, 2014
Expansion of ocular phenotypic features associated with mutations in ADAMTS18Aman Chandra, Gavin Arno, Kathleen Williamson, et al.
Nature Genetics|June 7, 2019
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
Investigative Ophthalmology & Visual Science|January 28, 2017
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early FeatureRachel L Taylor, Mark T Handley, Sarah Waller, et al.
Nature Communications|June 1, 2019
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEPAnja Thormann, Mihail Halachev, William McLaren, et al.
Plos Genetics|April 26, 2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, et al.
Human Molecular Genetics|December 24, 2013
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequenceJacqueline K Rainger, Shipra Bhatia, Hemant Bengani, et al.
Journal of the American College of Cardiology|March 17, 2018
Cardiac Genetic Predisposition in Sudden Infant Death SyndromeDavid J Tester, Leonie C H Wong, Pritha Chanana, et al.
American Journal of Medical Genetics. Part A|April 7, 2005
SOX2 anophthalmia syndromeNicola K Ragge, Birgit Lorenz, Adele Schneider, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growthSally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disordersCaroline F Wright, Jeremy F McRae, Stephen Clayton, et al.
Pageof 15

Showing results (71-80 of 144) with videos related to

Sort By:
Pageof 15
JAMA Ophthalmology|May 31, 2014
Expansion of ocular phenotypic features associated with mutations in ADAMTS18Aman Chandra, Gavin Arno, Kathleen Williamson, et al.
Nature Genetics|June 7, 2019
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
Investigative Ophthalmology & Visual Science|January 28, 2017
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early FeatureRachel L Taylor, Mark T Handley, Sarah Waller, et al.
Nature Communications|June 1, 2019
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEPAnja Thormann, Mihail Halachev, William McLaren, et al.
Plos Genetics|April 26, 2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, et al.
Human Molecular Genetics|December 24, 2013
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequenceJacqueline K Rainger, Shipra Bhatia, Hemant Bengani, et al.
Journal of the American College of Cardiology|March 17, 2018
Cardiac Genetic Predisposition in Sudden Infant Death SyndromeDavid J Tester, Leonie C H Wong, Pritha Chanana, et al.
American Journal of Medical Genetics. Part A|April 7, 2005
SOX2 anophthalmia syndromeNicola K Ragge, Birgit Lorenz, Adele Schneider, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growthSally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disordersCaroline F Wright, Jeremy F McRae, Stephen Clayton, et al.
Pageof 15