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R Fitzpatrick

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Proceedings of the National Academy of Sciences of the United States of America|December 20, 2000
HPP1: a transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancersJ Young, K G Biden, L A Simms, et al.
Nature Genetics|January 31, 2018
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
Nature Genetics|February 15, 2018
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
American Journal of Medical Genetics. Part A|June 17, 2015
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disabilityMichael J Parker, Alan E Fryer, Deborah J Shears, et al.
Human Mutation|May 12, 2017
A recurrent de novo mutation in ACTG1 causes isolated ocular colobomaJoe Rainger, Kathleen A Williamson, Dinesh C Soares, et al.
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.
Pageof 56

Showing results (461-470 of 555) with videos related to

Sort By:
Pageof 56
Proceedings of the National Academy of Sciences of the United States of America|December 20, 2000
HPP1: a transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancersJ Young, K G Biden, L A Simms, et al.
Nature Genetics|January 31, 2018
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
Nature Genetics|February 15, 2018
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndromeGabrielle Olley, Morad Ansari, Hemant Bengani, et al.
American Journal of Medical Genetics. Part A|June 17, 2015
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disabilityMichael J Parker, Alan E Fryer, Deborah J Shears, et al.
Human Mutation|May 12, 2017
A recurrent de novo mutation in ACTG1 causes isolated ocular colobomaJoe Rainger, Kathleen A Williamson, Dinesh C Soares, et al.
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.
Pageof 56