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1 . Academic Journal
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
저자
by
Rodilla, Cristina
;
Martín-Merida, Inmaculada
;
Blanco-Kelly, Fiona
;
Trujillo-Tiebas, María José
;
Avila-Fernandez, Almudena
, et al.
소스
In
American Journal of Ophthalmology
October 2023 254:87-103
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7 .
Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys
저자
by
Cerrada, Victoria
;
García-López, Marta
;
Moreno-Izquierdo, Ana
;
Villaverde, Cristina
;
Zurita, Olga
, et al.
소스
In
Stem Cell Research
October 2019 40
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7 . Academic Journal
Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion
저자
by
Akcay, Arzu
;
Ulucan, Korkut
;
Taskin, Necati
;
Boyraz, Mehmet
;
Akcay, Teoman
, et al.
소스
In
European Journal of Medical Genetics
August 2013 56(8):445-451
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7 . Academic Journal
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
저자
by
García-García, Gema
;
Sanchez-Navarro, Iker
;
Aller, Elena
;
Jaijo, Teresa
;
Fuster-Garcia, Carla
, et al.
소스
Molecular Vision; 2020, Vol. 26, p216-225, 10p
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7 . Academic Journal
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
저자
by
Martin-Merida, Inmaculada
;
Avila-Fernandez, Almudena
;
Del Pozo-Valero, Marta
;
Blanco-Kelly, Fiona
;
Zurita, Olga
, et al.
소스
Ophthalmology
. Aug2019, Vol. 126 Issue 8, p1181-1188. 8p.
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7 . Academic Journal
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
저자
by
Sanchez-Alcudia, Rocio
;
Garcia-Hoyos, Maria
;
Lopez-Martinez, Miguel Angel
;
Sanchez-Bolivar, Noelia
;
Zurita, Olga
, et al.
소스
PLoS ONE
. 4/12/2016, Vol. 11 Issue 4, p1-16. 16p.
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7 . Academic Journal
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
저자
by
Lopez-Rodriguez, Rosario
;
Lantero, Esther
;
Blanco-Kelly, Fiona
;
Avila-Fernandez, Almudena
;
Martin Merida, Inmaculada
, et al.
소스
Experimental Eye Research
. Nov2021, Vol. 212, pN.PAG-N.PAG. 1p.
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7 . Academic Journal
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families
저자
by
Martin-Merida, Inmaculada
;
Aguilera-Garcia, Domingo
;
Fernandez-San Jose, Patricia
;
Blanco-Kelly, Fiona
;
Zurita, Olga
, et al.
소스
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
; MAY 2018, 59 6, p2345-p2354, 10p.
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7 . Academic Journal
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
저자
by
Sanchez-Navarro, Iker
;
da Silva, Luciana R. J.
;
Blanco-Kelly, Fiona
;
Zurita, Olga
;
Sanchez-Bolivar, Noelia
, et al.
소스
SCIENTIFIC REPORTS
; MAR 27 2018, 8 p5285 11p.
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7 . Academic Journal
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
저자
by
Perez-Carro, Raquel
;
Corton, Marta
;
Sanchez-Navarro, Iker
;
Zurita, Olga
;
Sanchez-Bolivar, Noelia
, et al.
소스
SCIENTIFIC REPORTS
; JAN 25 2016, 6 p19531 9p.
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