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Ophthalmic Genetics|March 8, 2024
Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic alleleThales A C de Guimaraes, Francesco Lai, Raffaella Colombatti, et al.
Ophthalmic Genetics|July 31, 2023
Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 geneMarisol Ibarra-Ramírez, Marissa L Fernandez-de-Luna, Luis D Campos-Acevedo, et al.
Ophthalmic Genetics|August 18, 2023
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathyMariana Matioli da Palma, Molly Marra, Austin D Igelman, et al.
Ophthalmic Genetics|August 21, 2023
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomasNaoko Fukunaga, Takaaki Hayashi, Yuki Yamada, et al.
Ophthalmic Genetics|August 25, 2023
Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>GLucas A Garza-Garza, Priscila Villarreal-Martinez, Rocio Villafuerte-de la Cruz, et al.
Ophthalmic Genetics|June 29, 2023
Local progression kinetics of macular atrophy in recessive Stargardt diseaseBenjamin K Young, Peter Y Zhao, Liangbo L Shen, et al.
Ophthalmic Genetics|September 27, 2023
Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndromeKeri Mc Lean, Stefano Bignotti, Michele Callea, et al.
Ophthalmic Genetics|September 21, 2023
PNPLA6 disorders: what's in a name?James Liu, Robert B Hufnagel
Ophthalmic Genetics|September 18, 2023
Floating-Harbor syndrome with chorioretinal colobomasSamantha Alanis, M P Blair, L M Kaufman, et al.
Ophthalmic Genetics|September 13, 2023
Ocular manifestations of the genetic renal tubulopathiesGeFei Yang, Heather Mack, Philip Harraka, et al.
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