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1 . Academic Journal
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
저자
by
Alejandra Damián
;
Gonzalo Núñez-Moreno
;
Claire Jubin
;
Alejandra Tamayo
;
Marta Rodríguez de Alba
, et al.
소스
Human Genomics, Vol 17, Iss 1, Pp 1-12 (2023)
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7 . Academic Journal
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia
저자
by
Alejandra Tamayo
;
Gonzalo Núñez-Moreno
;
Carolina Ruiz
;
Julie Plaisancie
;
Alejandra Damian
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1562 (2023)
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7 . Academic Journal
Tuberculosis y salud mental: aspectos etiológicos, terapéuticos y evolutivos
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by
Marina Lagos
;
Catalina Pineda
;
Laura Saavedra
;
Vladimir Cortez
;
Diana Ortiz
, et al.
소스
Psicosomática y Psiquiatría, Iss 18 (2021)
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Find it @ DONGA
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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 .
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing
저자
by
Gonzalo Núñez-Moreno
;
Alejandra Tamayo
;
Carolina Ruiz-Sánchez
;
Marta Cortón
;
Pablo Mínguez
.
소스
Human Genetics
. 142:495-506
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7 .
Genética y epidemiología de la aniridia congénita: actualización de buenas prácticas para el diagnóstico genético
저자
by
Maria Tarilonte
;
Marta Corton
;
M.A. Moreno-Pelayo
;
M. Villamar
;
Alejandra Tamayo
, et al.
소스
Archivos de la Sociedad Española de Oftalmología
. 96:4-14
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7 .
OBTRUCCIÓN INTESTINAL SECUNDARIA A PÓLIPO GÁSTRICO HIPERPLÁSICO GIGANTE
저자
by
Alejandra Tamayo
;
Patricia Rivas
;
Jorge Valmaña
;
Inés Alía
;
José Joaquín Paricio
, et al.
소스
44 Congreso de la Sociedad Española de Endoscopia Digestiva Abstracts Publication
.
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7 .
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
저자
by
Guilermo Fernandez-Sanz
;
Patrick Calvas
;
Marta Corton
;
Carmen Ayuso
;
Patricia Ramos
, et al.
소스
Journal of Medical Genetics
. 59:428-437
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7 .
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms using long-read sequencing
저자
by
Gonzalo Núñez-Moreno
;
Alejandra Tamayo
;
Carolina Ruiz-Sánchez
;
Marta Cortón
;
Pablo Mínguez
.
소스
Open Access (OpenAIRE)
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7 .
Genetics and epidemiology of aniridia: Updated guidelines for genetic study
저자
by
Marta Corton
;
Carmen Ayuso
;
Fiona Blanco-Kelly
;
Alejandra Tamayo
;
M.A. Moreno-Pelayo
, et al.
소스
Archivos de la Sociedad Espanola de Oftalmologia
. 96
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