Gipuzkoa
Campusa
University of Messina
Mesina, ItaliaUniversity of Messina-ko ikertzaileekin lankidetzan egindako argitalpenak (9)
2023
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Surgeons’ perspectives on artificial intelligence to support clinical decision-making in trauma and emergency contexts: results from an international survey
World Journal of Emergency Surgery, Vol. 18
2022
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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111
2021
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Field-free spin-orbit torque-induced switching of perpendicular magnetization in a ferrimagnetic layer with a vertical composition gradient
Nature Communications, Vol. 12, Núm. 1
2019
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ADAPT technique with ACE68 and ACE64 reperfusion catheters in ischemic stroke treatment: Results from the PROMISE study
Journal of NeuroInterventional Surgery, Vol. 11, Núm. 3, pp. 226-231
2010
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Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
Human Mutation, Vol. 31, Núm. 5
2009
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Expanding CEP290 mutational spectrumin ciliopathies
American Journal of Medical Genetics, Part A, Vol. 149, Núm. 10, pp. 2173-2180
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MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement
Human Mutation, Vol. 30, Núm. 2, pp. E432-E442
2008
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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
Clinical Genetics, Vol. 74, Núm. 2, pp. 164-170
2007
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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
American Journal of Human Genetics, Vol. 81, Núm. 1, pp. 104-113