Biogipuzkoa
Centro de investigación
Telethon Institute Of Genetics And Medicine
Nápoles, ItaliaPublicaciones en colaboración con investigadores/as de Telethon Institute Of Genetics And Medicine (5)
2024
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Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients
Human Genetics and Genomics Advances, Vol. 5, Núm. 3
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
2005
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Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures
Neuromuscular Disorders, Vol. 15, Núm. 2, pp. 164-171