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Stephen J Tuft

Showing results (71-80 of 96) with videos related to

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European Journal of Human Genetics : EJHG|October 29, 2015
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3Petra Liskova, Cerys J Evans, Alice E Davidson, et al.
The British Journal of Ophthalmology|December 20, 2018
Fungal infection after endothelial keratoplasty: association with hypothermic corneal storageNicola Lau, Aida Hajjar Sesé, Victor A Augustin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2019
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeatNathaniel J Hafford-Tear, Yu-Chih Tsai, Amanda N Sadan, et al.
Acta Ophthalmologica|March 8, 2023
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophySiyin Liu, Amanda N Sadan, Kirithika Muthusamy, et al.
American Journal of Human Genetics|November 15, 2016
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment DysgenesisSek-Shir Cheong, Lisa Hentschel, Alice E Davidson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2025
Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophyMarcos Abreu Costa, Amanda N Sadan, Nihar Bhattacharyya, et al.
European Journal of Human Genetics : EJHG|August 21, 2024
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variantFreddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, et al.
Human Mutation|April 18, 2007
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophyPetra Liskova, Stephen J Tuft, Rhian Gwilliam, et al.
American Journal of Ophthalmology|April 26, 2022
Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic DataHoward P Maile, Ji-Peng Olivia Li, Mary D Fortune, et al.
Human Mutation|April 3, 2007
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. OnlineVedam L Ramprasad, Neil D Ebenezer, Tin Aung, et al.
Pageof 10

Showing results (71-80 of 96) with videos related to

Sort By:
Pageof 10
European Journal of Human Genetics : EJHG|October 29, 2015
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3Petra Liskova, Cerys J Evans, Alice E Davidson, et al.
The British Journal of Ophthalmology|December 20, 2018
Fungal infection after endothelial keratoplasty: association with hypothermic corneal storageNicola Lau, Aida Hajjar Sesé, Victor A Augustin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2019
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeatNathaniel J Hafford-Tear, Yu-Chih Tsai, Amanda N Sadan, et al.
Acta Ophthalmologica|March 8, 2023
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophySiyin Liu, Amanda N Sadan, Kirithika Muthusamy, et al.
American Journal of Human Genetics|November 15, 2016
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment DysgenesisSek-Shir Cheong, Lisa Hentschel, Alice E Davidson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2025
Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophyMarcos Abreu Costa, Amanda N Sadan, Nihar Bhattacharyya, et al.
European Journal of Human Genetics : EJHG|August 21, 2024
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variantFreddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, et al.
Human Mutation|April 18, 2007
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophyPetra Liskova, Stephen J Tuft, Rhian Gwilliam, et al.
American Journal of Ophthalmology|April 26, 2022
Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic DataHoward P Maile, Ji-Peng Olivia Li, Mary D Fortune, et al.
Human Mutation|April 3, 2007
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. OnlineVedam L Ramprasad, Neil D Ebenezer, Tin Aung, et al.
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