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1دورية أكاديمية
المؤلفون: Gemma Marinella, Alessandro Orsini, Massimo Scacciati, Elisa Costa, Andrea Santangelo, Guja Astrea, Silvia Frosini, Rosa Pasquariello, Anna Rubegni, Giada Sgherri, Martina Corsi, Alice Bonuccelli, Roberta Battini
المصدر: Genes, Vol 14, Iss 7, p 1363 (2023)
مصطلحات موضوعية: congenital myopathies, CACNA1S, dihydropyridine receptor congenital myopathy, CACNA1S myopathy, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Veronica Bertini, Francesca Cambi, Alessandro Orsini, Alice Bonuccelli, Aureliano Fiorini, Andrea Santangelo, Massimo Scacciati, Maurizio Elia, Ornella Galesi, Diego Peroni, Angelo Valetto
المصدر: Genes, Vol 13, Iss 12, p 2249 (2022)
مصطلحات موضوعية: nuclearfactor I family, macrocephaly, NCS defects, corpus callosum agenesis/hypoplasia, bilateral proximally placed first fingers, neurodevelopmental disorders, Genetics, QH426-470
وصف الملف: electronic resource
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3
المؤلفون: Veronica, Bertini, Francesca, Cambi, Alessandro, Orsini, Alice, Bonuccelli, Aureliano, Fiorini, Andrea, Santangelo, Massimo, Scacciati, Maurizio, Elia, Ornella, Galesi, Diego, Peroni, Angelo, Valetto
المصدر: Genes. 13(12)
مصطلحات موضوعية: NFI Transcription Factors, Humans, Haploinsufficiency, Chromosome Deletion, Urinary Tract, Megalencephaly