PEDIATRÍA CLÍNICA Y ENFERMEDADES RARAS
Hospital Clinic Barcelona
Barcelona, EspañaPublikationen in Zusammenarbeit mit Forschern von Hospital Clinic Barcelona (12)
2022
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Lung Ultrasound Scores Progress Differently in Extreme and Very Preterm Infants after Birth: A Multicentre Prospective Study
Neonatology, Vol. 119, Núm. 5, pp. 558-566
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Ultrasound-guided vascular access in the neonatal intensive care unit: a nationwide survey
European Journal of Pediatrics, Vol. 181, Núm. 6, pp. 2441-2451
2019
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Scientific Reports, Vol. 9, Núm. 1
2017
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1
2016
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Impact of quality-indicator-based measures to improve the treatment of acute poisoning in pediatric emergency patients
Emergencias, Vol. 28, Núm. 1, pp. 31-37
2013
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Application of FISH 7q in MDS patients without monosomy 7 or 7q deletion by conventional G-banding cytogenetics: Does -7/7q- detection by FISH have prognostic value?
Leukemia Research, Vol. 37, Núm. 4, pp. 416-421
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Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis
Journal of Medical Genetics, Vol. 50, Núm. 1, pp. 25-33
2011
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Replication of top markers of a genome-wide association study in multiple sclerosis in Spain
Genes and Immunity, Vol. 12, Núm. 2, pp. 110-115
2010
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The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis
Genes and Immunity, Vol. 11, Núm. 5, pp. 439-445
2008
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Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation
Neurogenetics, Vol. 9, Núm. 2, pp. 109-118
2005
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Ancestral origins of the prion protein gene D178N mutation in the Basque Country
Human Genetics, Vol. 117, Núm. 1, pp. 61-69