Biogipuzkoa
Ikerketa zentroa
Children's Hospital of Philadelphia
Filadelfia, Estados UnidosChildren's Hospital of Philadelphia-ko ikertzaileekin lankidetzan egindako argitalpenak (11)
2023
2022
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Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes
BMC Medical Genomics, Vol. 15, Núm. 1
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
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
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Mapping the human genetic architecture of COVID-19
Nature, Vol. 600, Núm. 7889, pp. 472-477
2020
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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
Human Mutation, Vol. 41, Núm. 4, pp. 837-849
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Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits
PLoS Genetics, Vol. 16, Núm. 10
2019
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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
Nature Genetics, Vol. 51, Núm. 5, pp. 804-814
2018
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Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
Human Molecular Genetics, Vol. 27, Núm. 4, pp. 742-756