Gipuzkoa
Campus
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Centro de Regulación Genómica
Barcelona, EspañaPublicaciones en colaboración con investigadoras/es de Centro de Regulación Genómica (10)
2023
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome medicine, Vol. 15, Núm. 1, pp. 68
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Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy
Cell reports, Vol. 42, Núm. 12, pp. 113490
2022
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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology, Vol. 98, Núm. 9, pp. E912-E923
2021
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
2018
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Prenatal co-exposure to neurotoxic metals and neurodevelopment in preschool children: The Environment and Childhood (INMA) Project
Science of the Total Environment, Vol. 621, pp. 340-351
2017
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GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence after Stroke
Stroke, Vol. 48, Núm. 5, pp. 1147-1153
2013
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In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs
Human Mutation, Vol. 34, Núm. 10, pp. 1387-1395
2012
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Indoor air pollution from gas cooking and infant neurodevelopment
Epidemiology, Vol. 23, Núm. 1, pp. 23-32
2010
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In vivo effects of APP are not exacerbated by BACE2 co-overexpression: Behavioural characterization of a double transgenic mouse model
Amino Acids, Vol. 39, Núm. 5, pp. 1571-1580