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Annie McNinch

Showing results (1-10 of 16) with videos related to

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Journal of Paediatrics and Child Health|October 26, 2012
Clinical phenotypes associated with type II collagen mutationsInderraj Hanspal, Annie McNinch, Allan Richards, et al.
Ophthalmic Genetics|May 31, 2017
Type I membranous anomaly in Stickler syndromePhilip Alexander, Arabella Poulson, Annie McNinch, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Somatic mosaicism and the phenotypic expression of COL2A1 mutationsSonali Nagendran, Allan J Richards, Annie McNinch, et al.
Genes|June 24, 2022
Dominant Stickler SyndromeZack Soh, Allan J Richards, Annie McNinch, et al.
European Journal of Human Genetics : EJHG|December 23, 2011
Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutationsAllan J Richards, Annie McNinch, Joanne Whittaker, et al.
Therapeutic Advances in Rare Disease|May 14, 2023
Therapeutic and diagnostic advances in Stickler syndromeMartin Snead, Howard Martin, Peter Bale, et al.
Molecular Genetics & Genomic Medicine|June 25, 2020
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing lossThomas Nixon, Allan J Richards, Adrian Lomas, et al.
American Journal of Medical Genetics. Part A|May 16, 2019
Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotypeThomas R W Nixon, Philip Alexander, Allan Richards, et al.
European Journal of Ophthalmology|April 9, 2023
Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndromeHammad Malik, Zack Soh, Thomas R W Nixon, et al.
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|September 9, 2020
Auditory dysfunction in type 2 Stickler SyndromePhilip Alexander, Philip Gomersall, Jack Stancel-Lewis, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Journal of Paediatrics and Child Health|October 26, 2012
Clinical phenotypes associated with type II collagen mutationsInderraj Hanspal, Annie McNinch, Allan Richards, et al.
Ophthalmic Genetics|May 31, 2017
Type I membranous anomaly in Stickler syndromePhilip Alexander, Arabella Poulson, Annie McNinch, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
Somatic mosaicism and the phenotypic expression of COL2A1 mutationsSonali Nagendran, Allan J Richards, Annie McNinch, et al.
Genes|June 24, 2022
Dominant Stickler SyndromeZack Soh, Allan J Richards, Annie McNinch, et al.
European Journal of Human Genetics : EJHG|December 23, 2011
Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutationsAllan J Richards, Annie McNinch, Joanne Whittaker, et al.
Therapeutic Advances in Rare Disease|May 14, 2023
Therapeutic and diagnostic advances in Stickler syndromeMartin Snead, Howard Martin, Peter Bale, et al.
Molecular Genetics & Genomic Medicine|June 25, 2020
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing lossThomas Nixon, Allan J Richards, Adrian Lomas, et al.
American Journal of Medical Genetics. Part A|May 16, 2019
Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotypeThomas R W Nixon, Philip Alexander, Allan Richards, et al.
European Journal of Ophthalmology|April 9, 2023
Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndromeHammad Malik, Zack Soh, Thomas R W Nixon, et al.
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|September 9, 2020
Auditory dysfunction in type 2 Stickler SyndromePhilip Alexander, Philip Gomersall, Jack Stancel-Lewis, et al.
Pageof 2