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1.
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
Ophthalmic Genet
; 45(2): 167-174, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-37592806
2.
A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.
Ophthalmic Genet
; 44(2): 191-197, 2023 04.
Article
in English
| MEDLINE | ID: mdl-35856163
3.
Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree.
BMJ Open Ophthalmol
; 6(1): e000813, 2021.
Article
in English
| MEDLINE | ID: mdl-34746433
4.
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
Invest Ophthalmol Vis Sci
; 62(7): 27, 2021 06 01.
Article
in English
| MEDLINE | ID: mdl-34185059
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