Analisi Klinikoak
Espezialitatea
Hospital Universitario de Donostia
San Sebastián, EspañaHospital Universitario de Donostia-ko ikertzaileekin lankidetzan egindako argitalpenak (21)
2023
2022
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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients
Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1
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Detailed stratified GWAS analysis for severe COVID-19 in four European populations
Human Molecular Genetics, Vol. 31, Núm. 23, pp. 3945-3966
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Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity
Ophthalmic genetics, Vol. 43, Núm. 6, pp. 809-816
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Initial study of anaemia profile for primary care centres with automated laboratory algorithms reduces the demand for ferritin, iron, transferrin, vitamin B 12 and folate tests
Journal of Clinical Pathology, Vol. 75, Núm. 2, pp. 94-98
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Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant
Clinical Genetics
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The Prevention of Ischemia-Reperfusion Injury in Elderly Rats after Lower Limb Tourniquet Use
Antioxidants, Vol. 11, Núm. 10
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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Engraftment after autologous hematopoietic stem cell transplantation in patients mobilized with Plerixafor: A retrospective, multicenter study of a large series of patients
Transfusion and Apheresis Science, Vol. 60, Núm. 3
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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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Mapping the human genetic architecture of COVID-19
Nature, Vol. 600, Núm. 7889, pp. 472-477
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Specific leukocyte differential and morphological alarms a clue for the detection of SARS-CoV-2 infection
Journal of Laboratory and Precision Medicine
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Streptococcus dysgalactiae subsp. equisimilis from invasive and non-invasive infections in Spain: combining epidemiology, molecular characterization, and genetic diversity
European Journal of Clinical Microbiology and Infectious Diseases, Vol. 40, Núm. 5, pp. 1013-1021
2020
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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268
2019
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2016
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Local verification between the hematological analyzers Sysmex XN-series and XE-5000
International Journal of Laboratory Hematology, Vol. 38, Núm. 3, pp. 256-264
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Luminal B breast cancer subtype displays a dicotomic epigenetic pattern
SpringerPlus, Vol. 5, Núm. 1
2015
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Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients
Journal of Medical Genetics, Vol. 52, Núm. 10, pp. 647-656