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Meeting Abstract (2)
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Investigative Ophthalmology & Visual Science (2)
Translational Vision Science & Technology (1)

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ARVO Annual Meeting Abstract (2)
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child (1)
cohort studies (1)
eye manifestations (1)
lesch-nyhan syndrome (1)
lisch nodules (1)
molecular diagnostic techniques (1)
neurofibromatosis 1 (1)
pediatrics (1)
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ARVO Annual Meeting Abstract June 2023

Variants in histone lysine methyltransferases resulting in Axenfeld-Rieger and Peters-plus like phenotypes.

Linda Reis; Huban Atilla; Peter Kannu; Adele Schneider; Samuel Thompson; Tanya Bardakjian; Elena V Semina

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):397.

Articles February 2022

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1

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Mariana Flores Pimentel; Anna Heath; Michael J. Wan; Rowaida Hussein; Kate E. Leahy; Heather MacDonald; Erika Tavares; Cynthia VandenHoven; Katelyn MacNeill; Peter Kannu; Patricia C. Parkin; Elise Heon; Arun Reginald; Ajoy Vincent
TAGS: child, eye manifestations, lesch-nyhan syndrome, lisch nodules, neurofibromatosis 1, pediatrics, prevalence, molecular diagnostic techniques, cohort studies
Trans. Vis. Sci. Tech.. 2022; 11(2):10. https://doi.org/10.1167/tvst.11.2.10

ARVO Annual Meeting Abstract June 2021

The Role of Extended Phenotyping and Functional Testing in Variant Interpretation of a Complex Patient with Overlapping Traits

Zhuo Shao; Ikuo Masuho; Anupreet Tumber; Jason Maynes; Erika Tavares; Stacy Hewson; Andreas Schulze; Peter Kannu; Kirill A Martemyanov; Ajoy Vincent

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1562.

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Online ISSN: 2164-2591

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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