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Trends in Molecular Medicine
|
September 13, 2005
Inherited eye disease: cause and late effect
Forbes D C Manson, Dorothy Trump, Andrew P Read, et al.
American Journal of Ophthalmology
|
February 7, 2006
Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome
Michel Michaelides, Jill Urquhart, Graham E Holder, et al.
Investigative Ophthalmology & Visual Science
|
September 8, 2011
Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2
Louise F Porter, Jill E Urquhart, Eamonn O'Donoghue, et al.
Investigative Ophthalmology & Visual Science
|
December 31, 2005
Developmental and tissue expression of Xenopus laevis RPGR
Xinhua Shu, Zhihong Zeng, Marion S Eckmiller, et al.
Investigative Ophthalmology & Visual Science
|
February 19, 2011
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy
Alice E Davidson, Ian D Millar, Rosemary Burgess-Mullan, et al.
Molecular Vision
|
January 5, 2011
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1
Alice E Davidson, Panagiotis I Sergouniotis, Rosemary Burgess-Mullan, et al.
Human Molecular Genetics
|
May 23, 2007
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination
Emma N Hilton, Forbes D C Manson, Jill E Urquhart, et al.
Human Mutation
|
April 22, 2008
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome
May Tassabehji, Zhi Ming Fang, Emma N Hilton, et al.
Orphanet Journal of Rare Diseases
|
May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and management
Emma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
American Journal of Human Genetics
|
June 2, 2009
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1
Dan Hanson, Philip G Murray, Amit Sud, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 19) with videos related to
Sort By:
Page
of 2
Trends in Molecular Medicine
|
September 13, 2005
Inherited eye disease: cause and late effect
Forbes D C Manson, Dorothy Trump, Andrew P Read, et al.
American Journal of Ophthalmology
|
February 7, 2006
Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome
Michel Michaelides, Jill Urquhart, Graham E Holder, et al.
Investigative Ophthalmology & Visual Science
|
September 8, 2011
Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2
Louise F Porter, Jill E Urquhart, Eamonn O'Donoghue, et al.
Investigative Ophthalmology & Visual Science
|
December 31, 2005
Developmental and tissue expression of Xenopus laevis RPGR
Xinhua Shu, Zhihong Zeng, Marion S Eckmiller, et al.
Investigative Ophthalmology & Visual Science
|
February 19, 2011
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy
Alice E Davidson, Ian D Millar, Rosemary Burgess-Mullan, et al.
Molecular Vision
|
January 5, 2011
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1
Alice E Davidson, Panagiotis I Sergouniotis, Rosemary Burgess-Mullan, et al.
Human Molecular Genetics
|
May 23, 2007
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination
Emma N Hilton, Forbes D C Manson, Jill E Urquhart, et al.
Human Mutation
|
April 22, 2008
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome
May Tassabehji, Zhi Ming Fang, Emma N Hilton, et al.
Orphanet Journal of Rare Diseases
|
May 7, 2013
Brittle cornea syndrome: recognition, molecular diagnosis and management
Emma M M Burkitt Wright, Louise F Porter, Helen L Spencer, et al.
American Journal of Human Genetics
|
June 2, 2009
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1
Dan Hanson, Philip G Murray, Amit Sud, et al.
Page
of 2