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Sophie Devery

Showing results (1-10 of 15) with videos related to

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Bone|March 17, 2019
KBG syndrome presenting with brachydactyly type ERenata Libianto, Kathy Hc Wu, Sophie Devery, et al.
Familial Cancer|July 20, 2007
Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypesMargaret Smith, Susan Fawcett, Emanouil Sigalas, et al.
Acta Ophthalmologica|October 20, 2011
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 genePanagiotis I Sergouniotis, Anthony G Robson, Zheng Li, et al.
Diabetes Research and Clinical Practice|September 8, 2025
Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome studyDevashree Balasingam, Rosalind Moxham, Sophie Devery, et al.
Internal Medicine Journal|April 24, 2023
Informing a value care model: lessons from an integrated adult neurogenomics clinicAlison McLean, Michel Tchan, Sophie Devery, et al.
The British Journal of Ophthalmology|June 7, 2013
Understanding the expectations of patients with inherited retinal dystrophiesRyan Combs, Georgina Hall, Katherine Payne, et al.
European Journal of Human Genetics : EJHG|February 14, 2013
Understanding the impact of genetic testing for inherited retinal dystrophyRyan Combs, Marion McAllister, Katherine Payne, et al.
American Journal of Human Genetics|November 3, 2009
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humansZheng Li, Panagiotis I Sergouniotis, Michel Michaelides, et al.
The British Journal of Ophthalmology|December 17, 2011
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2Mala Subash, Tryfonas Rotsos, Genevieve A Wright, et al.
Molecular Vision|April 3, 2010
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathyRajarshi Mukhopadhyay, Panagiotis I Sergouniotis, Donna S Mackay, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Bone|March 17, 2019
KBG syndrome presenting with brachydactyly type ERenata Libianto, Kathy Hc Wu, Sophie Devery, et al.
Familial Cancer|July 20, 2007
Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypesMargaret Smith, Susan Fawcett, Emanouil Sigalas, et al.
Acta Ophthalmologica|October 20, 2011
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 genePanagiotis I Sergouniotis, Anthony G Robson, Zheng Li, et al.
Diabetes Research and Clinical Practice|September 8, 2025
Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome studyDevashree Balasingam, Rosalind Moxham, Sophie Devery, et al.
Internal Medicine Journal|April 24, 2023
Informing a value care model: lessons from an integrated adult neurogenomics clinicAlison McLean, Michel Tchan, Sophie Devery, et al.
The British Journal of Ophthalmology|June 7, 2013
Understanding the expectations of patients with inherited retinal dystrophiesRyan Combs, Georgina Hall, Katherine Payne, et al.
European Journal of Human Genetics : EJHG|February 14, 2013
Understanding the impact of genetic testing for inherited retinal dystrophyRyan Combs, Marion McAllister, Katherine Payne, et al.
American Journal of Human Genetics|November 3, 2009
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humansZheng Li, Panagiotis I Sergouniotis, Michel Michaelides, et al.
The British Journal of Ophthalmology|December 17, 2011
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2Mala Subash, Tryfonas Rotsos, Genevieve A Wright, et al.
Molecular Vision|April 3, 2010
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathyRajarshi Mukhopadhyay, Panagiotis I Sergouniotis, Donna S Mackay, et al.
Pageof 2