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Genes
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July 27, 2022
Molecular Basis of Pathogenic Variants in the Fibrillar Collagens
Allan J Richards, Martin P Snead
Genes
|
July 27, 2022
From First to Second: How Stickler's Diagnostic Genetics Has Evolved to Match Sequencing Technologies
Howard Martin, Allan J Richards, Martin P Snead
American Journal of Medical Genetics. Part A
|
November 20, 2023
Ophthalmic manifestations of Czech dysplasia
Zack Soh, Howard Martin, Allan J Richards, et al.
American Journal of Medical Genetics. Part A
|
April 13, 2012
Somatic mosaicism and the phenotypic expression of COL2A1 mutations
Sonali Nagendran, Allan J Richards, Annie McNinch, et al.
Genes
|
June 24, 2022
Dominant Stickler Syndrome
Zack Soh, Allan J Richards, Annie McNinch, et al.
The British Journal of Ophthalmology
|
March 10, 2007
Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen
Sarah P Meredith, Allan J Richards, Philip Bearcroft, et al.
Genes
|
July 27, 2022
Autosomal Recessive Stickler Syndrome
Thomas R W Nixon, Allan J Richards, Howard Martin, et al.
Progress in Retinal and Eye Research
|
September 30, 2024
Pathobiology of the crystalline lens in Stickler syndrome
Martin P Snead, Frank J Lovicu, Thomas Rw Nixon, et al.
European Journal of Human Genetics : EJHG
|
December 23, 2011
Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations
Allan J Richards, Annie McNinch, Joanne Whittaker, et al.
Ophthalmology
|
August 7, 2007
Retinal detachment and prophylaxis in type 1 Stickler syndrome
Alan Ang, Arabella V Poulson, Sandy F Goodburn, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 26) with videos related to
Sort By:
Page
of 3
Genes
|
July 27, 2022
Molecular Basis of Pathogenic Variants in the Fibrillar Collagens
Allan J Richards, Martin P Snead
Genes
|
July 27, 2022
From First to Second: How Stickler's Diagnostic Genetics Has Evolved to Match Sequencing Technologies
Howard Martin, Allan J Richards, Martin P Snead
American Journal of Medical Genetics. Part A
|
November 20, 2023
Ophthalmic manifestations of Czech dysplasia
Zack Soh, Howard Martin, Allan J Richards, et al.
American Journal of Medical Genetics. Part A
|
April 13, 2012
Somatic mosaicism and the phenotypic expression of COL2A1 mutations
Sonali Nagendran, Allan J Richards, Annie McNinch, et al.
Genes
|
June 24, 2022
Dominant Stickler Syndrome
Zack Soh, Allan J Richards, Annie McNinch, et al.
The British Journal of Ophthalmology
|
March 10, 2007
Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen
Sarah P Meredith, Allan J Richards, Philip Bearcroft, et al.
Genes
|
July 27, 2022
Autosomal Recessive Stickler Syndrome
Thomas R W Nixon, Allan J Richards, Howard Martin, et al.
Progress in Retinal and Eye Research
|
September 30, 2024
Pathobiology of the crystalline lens in Stickler syndrome
Martin P Snead, Frank J Lovicu, Thomas Rw Nixon, et al.
European Journal of Human Genetics : EJHG
|
December 23, 2011
Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations
Allan J Richards, Annie McNinch, Joanne Whittaker, et al.
Ophthalmology
|
August 7, 2007
Retinal detachment and prophylaxis in type 1 Stickler syndrome
Alan Ang, Arabella V Poulson, Sandy F Goodburn, et al.
Page
of 3