Associated Papers
Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.
Tedesco MG et al.
Genes, 2025
TIMP3 c.319C>T, p.(Arg107Cys): Novel Sequence Variant In Sorsby Fundus Dystrophy.
Hristova R et al.
Nepalese Journal of Ophthalmology : a Biannual Peer-reviewed Academic Journal of the Nepal Ophthalmic Society : Nepjoph, 2024
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