Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Mackay, Deborah J G, Gazdagh, Gabriella, Monk, David, Brioude, Frederic, Giabicani, Eloise, Krzyzewska, Izabela M, Kalish, Jennifer M, Maas, Saskia M, Kagami, Masayo, Beygo, Jasmin, Kahre, Tiina, Tenorio-Castano, Jair, Ambrozaitytė, Laima, Burnytė, Birutė, Cerrato, Flavia, Davies, Justin H, Ferrero, Giovanni Battista, Fjodorova, Olga, Manero-Azua, Africa, Pereda, Arrate, Russo, Silvia, Tannorella, Pierpaola, Temple, Karen I, Õunap, Katrin, Riccio, Andrea, de Nanclares, Guiomar Perez, Maher, Eamonn R, Lapunzina, Pablo, Netchine, Irène, Eggermann, Thomas, Bliek, Jet, Tümer, Zeynep
Published in Clinical epigenetics (01.08.2024)
Published in Clinical epigenetics (01.08.2024)
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Vitamin D deficiency in adulthood: Presentation of 2familial cases simulating pseudohypoparathyroidism
Manero-Azua, África, Pereda, Arrate, González Cabrera, Natalia, Martínez de Salinas Santamaría, M Ángeles, Cámara Balda, Alejandro, Pérez de Nanclares, Guiomar
Published in Medicina clinica (07.12.2023)
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Published in Medicina clinica (07.12.2023)
Journal Article
Vitamin D deficiency in adulthood: Presentation of 2 familial cases simulating pseudohypoparathyroidism
Manero-Azua, África, Pereda, Arrate, González Cabrera, Natalia, Martínez de Salinas Santamaría, M. Ángeles, Cámara Balda, Alejandro, Pérez de Nanclares, Guiomar
Published in Medicina clínica (English ed.) (01.12.2023)
Published in Medicina clínica (English ed.) (01.12.2023)
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IC9ORF72/I Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia
Kortazar-Zubizarreta, Izaro, Manero-Azua, Africa, Afonso-Agüera, Juan, Perez de Nanclares, Guiomar
Published in Journal of personalized medicine (01.09.2023)
Published in Journal of personalized medicine (01.09.2023)
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Journal Article
C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia
Kortazar-Zubizarreta, Izaro, Manero-Azua, Africa, Afonso-Agüera, Juan, Perez de Nanclares, Guiomar
Published in Journal of personalized medicine (19.09.2023)
Published in Journal of personalized medicine (19.09.2023)
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Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value
Kortazar-Zubizarreta, Izaro, Eraña, Hasier, Pereda, Arrate, Charco, Jorge M, Manero-Azua, Africa, Ruiz-Onandi, Rebeca, Aguirre, Urko, Gonzalez-Chinchon, Gonzalo, Perez de Nanclares, Guiomar, Castilla, Joaquín
Published in Journal of neuropathology and experimental neurology (01.02.2023)
Published in Journal of neuropathology and experimental neurology (01.02.2023)
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