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1 . Academic Journal
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
저자
by
Lidia Fernández-Caballero
;
Inmaculada Martín-Merida
;
Fiona Blanco-Kelly
;
Almudena Avila-Fernandez
;
Ester Carreño
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2913 (2024)
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7 . Academic Journal
Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment
저자
by
Nelmar Valentina Ortiz-Cabrera
;
Teresa Gavela-Pérez
;
Francisco Javier Mejorado-Molano
;
Jessica Mire Santillán-Coello
;
José Miguel Villacampa-Aubá
, et al.
소스
Anales de Pediatría (English Edition), Vol 97, Iss 4, Pp 247-254 (2022)
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7 . Academic Journal
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
저자
by
Irene Perea-Romero
;
Carlos Solarat
;
Fiona Blanco-Kelly
;
Iker Sanchez-Navarro
;
Brais Bea-Mascato
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-7 (2022)
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7 . Academic Journal
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases
저자
by
Raquel Romero
;
Lorena de la Fuente
;
Marta Del Pozo-Valero
;
Rosa Riveiro-Álvarez
;
María José Trujillo-Tiebas
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
저자
by
Francisco Martinez-Granero
;
Fiona Blanco-Kelly
;
Carolina Sanchez-Jimeno
;
Almudena Avila-Fernandez
;
Ana Arteche
, et al.
소스
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)
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7 . Academic Journal
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies
저자
by
Ionut-Florin Iancu
;
Almudena Avila-Fernandez
;
Ana Arteche
;
Maria Jose Trujillo-Tiebas
;
Rosa Riveiro-Alvarez
, et al.
소스
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)
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7 . Academic Journal
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies
저자
by
Ionut-Florin Iancu
;
Irene Perea-Romero
;
Gonzalo Núñez-Moreno
;
Lorena de la Fuente
;
Raquel Romero
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 15, p 8431 (2022)
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7 . Academic Journal
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts
저자
by
Alejandra Damián
;
Raluca Oancea Ionescu
;
Marta Rodríguez de Alba
;
Alejandra Tamayo
;
María José Trujillo-Tiebas
, et al.
소스
International Journal of Molecular Sciences, Vol 22, Iss 23, p 12713 (2021)
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7 . Academic Journal
Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies
저자
by
Ana Bustamante-Aragones
;
Sara Perlado-Marina
;
Maria José Trujillo-Tiebas
;
Jesús Gallego-Merlo
;
Isabel Lorda-Sanchez
, et al.
소스
Journal of Clinical Medicine, Vol 3, Iss 3, Pp 913-922 (2014)
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7 . Academic Journal
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
저자
by
Fiona Blanco-Kelly
;
María Palomares
;
Elena Vallespín
;
Cristina Villaverde
;
Rubén Martín-Arenas
, et al.
소스
PLoS ONE, Vol 12, Iss 2, p e0172363 (2017)
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