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Anthony T Moore

Showing results (261-270 of 277) with videos related to

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Human Molecular Genetics|June 15, 2012
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3Valentina Cipriani, Hin-Tak Leung, Vincent Plagnol, et al.
American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.
The New England Journal of Medicine|May 5, 2015
Long-term effect of gene therapy on Leber's congenital amaurosisJames W B Bainbridge, Manjit S Mehat, Venki Sundaram, et al.
Nature Genetics|October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyCarol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Plos Genetics|August 30, 2018
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaLin Li, Xiaodong Jiao, Ilaria D'Atri, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disordersJames Liu, Yi He, Cara Lwin, et al.
Brain : a Journal of Neurology|May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disordersJames Liu, Yi He, Cara Lwin, et al.
American Journal of Epidemiology|April 19, 2011
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older peopleGareth J McKay, Giuliana Silvestri, Usha Chakravarthy, et al.
Pageof 28

Showing results (261-270 of 277) with videos related to

Sort By:
Pageof 28
Human Molecular Genetics|June 15, 2012
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3Valentina Cipriani, Hin-Tak Leung, Vincent Plagnol, et al.
American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.
The New England Journal of Medicine|May 5, 2015
Long-term effect of gene therapy on Leber's congenital amaurosisJames W B Bainbridge, Manjit S Mehat, Venki Sundaram, et al.
Nature Genetics|October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyCarol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Plos Genetics|August 30, 2018
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaLin Li, Xiaodong Jiao, Ilaria D'Atri, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disordersJames Liu, Yi He, Cara Lwin, et al.
Brain : a Journal of Neurology|May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disordersJames Liu, Yi He, Cara Lwin, et al.
American Journal of Epidemiology|April 19, 2011
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older peopleGareth J McKay, Giuliana Silvestri, Usha Chakravarthy, et al.
Pageof 28