Julián
Nevado Blanco
Publications dans lesquelles il/elle collabore avec Julián Nevado Blanco (5)
2024
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The Human Phenotype Ontology in 2024: phenotypes around the world
Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346
2022
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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
Clinical Epigenetics, Vol. 14, Núm. 1
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Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome
Journal of Medical Genetics, Vol. 59, Núm. 3, pp. 253-261
2016
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Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques
American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749
2011
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Constitutional mosaic genome-wide uniparental disomy due to diploidisation: An unusual cancer-predisposing mechanism
Journal of Medical Genetics, Vol. 48, Núm. 3, pp. 212-216