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Anthony T Moore

Showing results (251-260 of 277) with videos related to

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American Journal of Human Genetics|January 31, 2012
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment developmentTom R Webb, Mar Matarin, Jessica C Gardner, et al.
American Journal of Human Genetics|January 31, 2012
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathyPia Ostergaard, Michael A Simpson, Antonella Mendola, et al.
American Journal of Human Genetics|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.
Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.
Human Molecular Genetics|July 23, 2013
Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degenerationMorad Ansari, Paul M McKeigue, Christine Skerka, et al.
The Journal of Clinical Investigation|July 26, 2008
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in miceZhenglin Yang, Yali Chen, Concepcion Lillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
Journal of Medical Genetics|December 7, 2014
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromesRobert B Hufnagel, Gavin Arno, Nichole D Hein, et al.
Nature Genetics|June 2, 2015
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaSusanne Kohl, Ditta Zobor, Wei-Chieh Chiang, et al.
Pageof 28

Showing results (251-260 of 277) with videos related to

Sort By:
Pageof 28
American Journal of Human Genetics|January 31, 2012
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment developmentTom R Webb, Mar Matarin, Jessica C Gardner, et al.
American Journal of Human Genetics|January 31, 2012
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathyPia Ostergaard, Michael A Simpson, Antonella Mendola, et al.
American Journal of Human Genetics|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.
Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.
Human Molecular Genetics|July 23, 2013
Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degenerationMorad Ansari, Paul M McKeigue, Christine Skerka, et al.
The Journal of Clinical Investigation|July 26, 2008
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in miceZhenglin Yang, Yali Chen, Concepcion Lillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
Journal of Medical Genetics|December 7, 2014
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromesRobert B Hufnagel, Gavin Arno, Nichole D Hein, et al.
Nature Genetics|June 2, 2015
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaSusanne Kohl, Ditta Zobor, Wei-Chieh Chiang, et al.
Pageof 28