Human Genome Epidemiology Literature Finder
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Records 1 - 4 (of 4 Records) |
| Query Trace: Blindness and GUCY2D[original query] |
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| Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PloS one 2013 8 (1): 1. Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM |
| 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 |
| Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. Journal of applied genetics 2022 11 64 (1): 89-104. Skorczyk-Werner Anna, Sowi?ska-Seidler Anna, Wawrocka Anna, Walczak-Sztulpa Joanna, Krawczy?ski Maciej Robe |
| Comprehensive genotyping and phenotyping analysis of GUCY2D-associated rod- and cone-dominated dystrophies. American journal of ophthalmology 2023 6 . Cristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Almudena Avila-Fernandez, Rosa Riveiro-Alvarez, Marta Del Pozo-Valero, Irene Perea-Romero, Saoud T Swafiri, Olga Zurita, Cristina Villaverde, Miguel A López, Raquel Romero, Ionut Florin Iancu, Gonzalo Núñez-Moreno, Belén Jiménez-Rolando, María Pilar Martin-Gutierrez, Ester Carreño, Pablo Minguez, Blanca García-Sandoval, Carmen Ayuso, Marta Cort |
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