المؤلفون: Gnazzo, Maria, Parlapiano, Giovanni, Di Lorenzo, Francesca, Perrino, Daniele, Genovese, Silvia, Lanari, Valentina, Righi, Daniela, Calì, Federica, Silvetti, Massimo Stefano, Falcone, Elena, Bauleo, Alessia, Drago, Fabrizio, Novelli, Antonio, Baban, Anwar

المصدر: Biomolecules (2218-273X); Nov2024, Vol. 14 Issue 11, p1450, 16p

مصطلحات موضوعية: DNA copy number variations, ATRIAL arrhythmias, YOUNG adults, VENTRICULAR tachycardia, CARDIAC arrest, ARRHYTHMIA

المؤلفون: Gnazzo, Maria, Pascolini, Giulia, Parlapiano, Giovanni, Petrizzelli, Francesco, Perrino, Daniele, Porco, Luigina, Bartuli, Andrea, Novelli, Antonio, Baban, Anwar

المصدر: Clinical Genetics; Jul2024, Vol. 106 Issue 1, p109-113, 5p

مصطلحات موضوعية: NUCLEOTIDE sequencing, ARRHYTHMIA, HEARING disorders, PHENOTYPES, DEVELOPMENTAL delay, SYNDROMES

المؤلفون: Barili, Valeria, Dall'Asta, Andrea, Uliana, Vera, Schera, Giovanni Battista Luca, Ormitti, Francesca, Romanini, Enzo, Micalizzi, Alessia, Magliozzi, Monia, Perrino, Daniele, Novelli, Antonio, Ghi, Tullio, Percesepe, Antonio

المساهمون: Barili, Valeria, Dall'Asta, Andrea, Uliana, Vera, Schera, Giovanni Battista Luca, Ormitti, Francesca, Romanini, Enzo, Micalizzi, Alessia, Magliozzi, Monia, Perrino, Daniele, Novelli, Antonio, Ghi, Tullio, Percesepe, Antonio

مصطلحات موضوعية: Female-restricted X-linked mental retardation (MRXS99F), Prenatal diagnosi, Skewed X-inactivation, USP9X, Whole exome sequencing

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000875649200001; volume:65; issue:12; firstpage:104638; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11381/2932134; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139736616

الاتاحة: https://hdl.handle.net/11381/2932134
https://doi.org/10.1016/j.ejmg.2022.104638