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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 24, 2025. (Total: 235644Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Retinal Dystrophies and RPE65[original query]
CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.
Retina (Philadelphia, Pa.) 2016 Oct .
Hafler Brian
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Molecular genetics & genomic medicine 2019 11 8 (1): .
Zenteno Juan C, García-Montaño Leopoldo A, Cruz-Aguilar Marisa, Ronquillo Josué, Rodas-Serrano Agustín, Aguilar-Castul Luis, Matsui Rodrigo, Vencedor-Meraz Carlos I, Arce-González Rocío, Graue-Wiechers Federico, Gutiérrez-Paz Mario, Urrea-Victoria Tatiana, de Dios Cuadras Ulises, Chacón-Camacho Oscar
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
Orphanet journal of rare diseases 2020 Dec 15 (1): 345.
Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczy?ski Maciej Robe
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Experimental eye research 2021 9 212 108761.
Lopez-Rodriguez Rosario, Lantero Esther, Blanco-Kelly Fiona, Avila-Fernandez Almudena, Martin Merida Inmaculada, Del Pozo-Valero Marta, Perea-Romero Irene, Zurita Olga, Jiménez-Rolando Belén, Swafiri Saoud Tahsin, Riveiro-Alvarez Rosa, Trujillo-Tiebas María José, Carreño Salas Ester, García-Sandoval Blanca, Corton Marta, Ayuso Carm
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