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Forbes D C Manson

Showing results (11-20 of 19) with videos related to

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American Journal of Human Genetics|August 2, 2007
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosumElena Boland, Jill Clayton-Smith, Victoria G Woo, et al.
Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 10, 2015
MiR-204 is responsible for inherited retinal dystrophy associated with ocular colobomaIvan Conte, Kristen D Hadfield, Sara Barbato, et al.
American Journal of Human Genetics|January 9, 2008
Biallelic mutation of BEST1 causes a distinct retinopathy in humansRosemary Burgess, Ian D Millar, Bart P Leroy, et al.
American Journal of Human Genetics|October 27, 2009
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaAlice E Davidson, Ian D Millar, Jill E Urquhart, et al.
American Journal of Human Genetics|April 20, 2010
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71Darryl Y Nishimura, Lisa M Baye, Rahat Perveen, et al.
American Journal of Human Genetics|May 14, 2004
Delineation of Cohen syndrome following a large-scale genotype-phenotype screenJuha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, et al.
Investigative Ophthalmology & Visual Science|September 29, 2004
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)Jill Yardley, Bart P Leroy, Niki Hart-Holden, et al.
American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
American Journal of Human Genetics|August 2, 2007
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosumElena Boland, Jill Clayton-Smith, Victoria G Woo, et al.
Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 10, 2015
MiR-204 is responsible for inherited retinal dystrophy associated with ocular colobomaIvan Conte, Kristen D Hadfield, Sara Barbato, et al.
American Journal of Human Genetics|January 9, 2008
Biallelic mutation of BEST1 causes a distinct retinopathy in humansRosemary Burgess, Ian D Millar, Bart P Leroy, et al.
American Journal of Human Genetics|October 27, 2009
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaAlice E Davidson, Ian D Millar, Jill E Urquhart, et al.
American Journal of Human Genetics|April 20, 2010
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71Darryl Y Nishimura, Lisa M Baye, Rahat Perveen, et al.
American Journal of Human Genetics|May 14, 2004
Delineation of Cohen syndrome following a large-scale genotype-phenotype screenJuha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, et al.
Investigative Ophthalmology & Visual Science|September 29, 2004
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)Jill Yardley, Bart P Leroy, Niki Hart-Holden, et al.
American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.
Pageof 2