Suchergebnisse - "Tuft, Stephen J"

PubPharm (159)

1

Tissue-Specific Dynamics ofTCF4Triplet Repeat Instability Revealed by Optical Genome Mapping

enthalten in: bioRxiv.org | 2024

von Zarouchlioti, C. | Efthymiou, S. | Fracchini, S. | +18

2

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

enthalten in: bioRxiv.org | 2024

von Bhattacharyya, N. | Chai, N. | Hafford-Tear, N. | +18

3

A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds

enthalten in: Eye (London, England) | 2024

von Li, J. | Maile, H. | Bunce, C. | +6

4

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1

enthalten in: American journal of ophthalmology | 2024

von Patterson, K. | Chong, J. | Chung, D. | +18

5

Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy

enthalten in: Acta ophthalmologica | 2023

von Liu, S. | Sadan, A. | Muthusamy, K. | +12

6

Reply to Comment on : Personalized model to predict keratoconus progression from demographic, topographic and genetic data

enthalten in: American journal of ophthalmology | 2023

von Maile, H. | Li, J. | Pontikos, N. | +2

CommentOn: Am J Ophthalmol. 2022 Aug;240:321-329. - PMID 35469790

7

Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy

enthalten in: Acta Ophthalmologica | 2023

von Liu, S. | Sadan, A. | Muthusamy, K. | +12

8

Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant

enthalten in: Journal of clinical medicine | 2022

von Skalicka, P. | Jedlickova, J. | Horinek, A. | +5

9

Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic Data

enthalten in: American journal of ophthalmology | 2022

von Maile, H. | Li, J. | Fortune, M. | +11

CommentIn: Am J Ophthalmol. 2023 May;249:191-192. - PMID 36379321

10

Frequency and Distribution of Corneal Astigmatism and Keratometry Features: Methodology and Findings of the UK Biobank Study

enthalten in: bioRxiv.org | 2021

von Pontikos, N. | Chua, S. | Foster, P. | +2

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