-
1دورية أكاديمية
المؤلفون: Mirella Vinci, Simone Treccarichi, Rosanna Galati Rando, Antonino Musumeci, Valeria Todaro, Concetta Federico, Salvatore Saccone, Maurizio Elia, Francesco Calì
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
مصطلحات موضوعية: Ubiquitination, Whole exome sequencing, Autism spectrum disorder, E3 ubiquitin-protein ligase, Splicing region, Autosomal dominant inheritance model, Medicine, Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
-
2دورية أكاديمية
المؤلفون: Simone Treccarichi, Francesco Calì, Mirella Vinci, Alda Ragalmuto, Antonino Musumeci, Concetta Federico, Carola Costanza, Maria Bottitta, Donatella Greco, Salvatore Saccone, Maurizio Elia
المصدر: Current Issues in Molecular Biology, Vol 46, Iss 7, Pp 6407-6422 (2024)
مصطلحات موضوعية: next generation sequencing, SOX12 gene, epilepsy, neurodevelopmental delay, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
3دورية أكاديميةNext Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy
المؤلفون: Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto, Antonino Musumeci, Antonio Fallea, Concetta Federico, Francesco Calì, Salvatore Saccone, Maurizio Elia
المصدر: Current Issues in Molecular Biology, Vol 46, Iss 2, Pp 1150-1163 (2024)
مصطلحات موضوعية: early-onset myopathy, ion channelopathy, P2X receptors, whole exome sequencing, P2RX6 gene, skeletal muscle, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Mirella Vinci, Donatella Greco, Simone Treccarichi, Valeria Chiavetta, Maria Grazia Figura, Antonino Musumeci, Vittoria Greco, Concetta Federico, Francesco Calì, Salvatore Saccone
المصدر: Genes, Vol 15, Iss 8, p 1056 (2024)
مصطلحات موضوعية: Krüppel-like factor, axonal growth, transcription factors, next-generation sequencing, missense mutation, autosomal dominant inheritance, Genetics, QH426-470
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: Francesco Calì, Mirella Vinci, Simone Treccarichi, Carla Papa, Angelo Gloria, Antonino Musumeci, Concetta Federico, Girolamo Aurelio Vitello, Antonio Gennaro Nicotera, Gabriella Di Rosa, Luigi Vetri, Salvatore Saccone, Maurizio Elia
المصدر: Genes, Vol 15, Iss 8, p 1096 (2024)
مصطلحات موضوعية: periventricular leukomalacia, white matter hyperintensities, cell division control protein 42 (CDC42), GTPase pathway, next-generation sequencing, whole exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
-
6دورية أكاديمية
المؤلفون: Simone Treccarichi, Pinella Failla, Mirella Vinci, Antonino Musumeci, Angelo Gloria, Anna Vasta, Giuseppe Calabrese, Carla Papa, Concetta Federico, Salvatore Saccone, Francesco Calì
المصدر: Genes, Vol 15, Iss 3, p 306 (2024)
مصطلحات موضوعية: UNC5C gene, netrin 1/DCC, axon guidance, microtubule dynamics, whole-exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
-
7دورية أكاديمية
المؤلفون: Luigi Vetri, Francesco Calì, Salvatore Saccone, Mirella Vinci, Natalia Valeria Chiavetta, Marco Carotenuto, Michele Roccella, Carola Costanza, Maurizio Elia
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 2, p 1146 (2024)
مصطلحات موضوعية: developmental and epileptic encephalopathy, whole-exome sequencing, next-generation sequencing, NGS, WES, DEE, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
-
8دورية أكاديمية
المؤلفون: Mirella Vinci, Carola Costanza, Rosanna Galati Rando, Simone Treccarichi, Salvatore Saccone, Marco Carotenuto, Michele Roccella, Francesco Calì, Maurizio Elia, Luigi Vetri
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 22, p 16436 (2023)
مصطلحات موضوعية: STXBP6 gene, epilepsy, next-generation sequencing, SNAP25, amysin, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
-
9دورية أكاديمية
المؤلفون: Francesco Calì, Francesco Domenico Di Blasi, Emanuela Avola, Mirella Vinci, Antonino Musumeci, Angelo Gloria, Donatella Greco, Daniela Rita Raciti, Alessandro Zagami, Biagio Rizzo, Santina Città, Concetta Federico, Luigi Vetri, Salvatore Saccone, Serafino Buono
المصدر: Medicina, Vol 59, Iss 8, p 1503 (2023)
مصطلحات موضوعية: Specific Learning Disorder (SLD), dyslexia, next-generation sequencing, multiplex SLD families, single nucleotide polymorphisms, Medicine (General), R5-920
وصف الملف: electronic resource
-
10دورية أكاديمية
المؤلفون: Mirella Vinci, Petri Kursula, Donatella Greco, Maurizio Elia, Luigi Vetri, Carmelo Schepis, Valeria Chiavetta, Serena Donadio, Michele Roccella, Marco Carotenuto, Valentino Romano, Francesco Calì
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)
مصطلحات موضوعية: AHNAK2, borderline intellectual functioning, epilepsy, facio‐cardio‐cutaneous‐like phenotype, NGS exome, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269