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1 . Academic Journal
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
저자
by
Gema García-García
;
Alba Berzal-Serrano
;
Piedad García-Díaz
;
Rebeca Villanova-Aparisi
;
Sara Juárez-Rodríguez
, et al.
소스
Genes, Vol 11, Iss 12, p 1467 (2020)
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7 . Academic Journal
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.
저자
by
Sarah Moreau-Le Lan
;
Elena Aller
;
Ines Calabria
;
Lola Gonzalez-Tarancon
;
Cristina Cardona-Gay
, et al.
소스
PLoS ONE, Vol 13, Iss 12, p e0207296 (2018)
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7 . Academic Journal
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
저자
by
Raquel Pérez-Carro
;
Fiona Blanco-Kelly
;
Lilián Galbis-Martínez
;
Gema García-García
;
Elena Aller
, et al.
소스
PLoS ONE, Vol 13, Iss 6, p e0199048 (2018)
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7 . Academic Journal
Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.
저자
by
Fiona Blanco-Kelly
;
María García Hoyos
;
Miguel Angel Lopez Martinez
;
Maria Isabel Lopez-Molina
;
Rosa Riveiro-Alvarez
, et al.
소스
PLoS ONE, Vol 11, Iss 2, p e0149473 (2016)
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7 . Academic Journal
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation
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by
Radulfus WN Slijkerman
;
Christel Vaché
;
Margo Dona
;
Gema García-García
;
Mireille Claustres
, et al.
소스
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
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7 . Academic Journal
Analysis of the Ush2a gene in medaka fish (Oryzias latipes).
저자
by
Elena Aller
;
Ana V Sánchez-Sánchez
;
Javier U Chicote
;
Gema García-García
;
Patricia Udaondo
, et al.
소스
PLoS ONE, Vol 8, Iss 9, p e74995 (2013)
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7 . Academic Journal
A genetic basis for mechanosensory traits in humans.
저자
by
Henning Frenzel
;
Jörg Bohlender
;
Katrin Pinsker
;
Bärbel Wohlleben
;
Jens Tank
, et al.
소스
PLoS Biology, Vol 10, Iss 5, p e1001318 (2012)
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7 .
Changes in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans
저자
by
Ana P Gómez‐Escribano
;
Carlos Mora‐Martínez
;
Marta Roca
;
Denise S Walker
;
Joaquín Panadero
, et al.
소스
EMBO reports
.
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7 .
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
저자
by
José M Millán
;
Angeles Fernandez
;
Berta Rodríguez
;
Carmen García-Pardos
;
Leandro Soriano-Guillén
, et al.
소스
BMC Medical Genetics
BMC Medical Genetics, Vol 12, Iss 1, p 116 (2011)
Biblos-e Archivo. Repositorio Institucional de la UAM
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