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Journal of Medical Genetics
|
May 22, 2016
Molecular findings from 537 individuals with inherited retinal disease
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.
Ophthalmology
|
February 14, 2016
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.
American Journal of Human Genetics
|
November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
Jill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.
American Journal of Human Genetics
|
January 15, 2013
LRIG2 mutations cause urofacial syndrome
Helen M Stuart, Neil A Roberts, Berk Burgu, et al.
American Journal of Human Genetics
|
December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Sara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
Nature
|
April 3, 2010
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
, Nick Craddock, Matthew E Hurles, et al.
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of 2
Search research articles
Search
Showing results (11-20 of 16) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 16 results.
Journal of Medical Genetics
|
May 22, 2016
Molecular findings from 537 individuals with inherited retinal disease
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.
Ophthalmology
|
February 14, 2016
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.
American Journal of Human Genetics
|
November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
Jill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.
American Journal of Human Genetics
|
January 15, 2013
LRIG2 mutations cause urofacial syndrome
Helen M Stuart, Neil A Roberts, Berk Burgu, et al.
American Journal of Human Genetics
|
December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
Sara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
Nature
|
April 3, 2010
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
, Nick Craddock, Matthew E Hurles, et al.
Page
of 2