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1دورية أكاديمية
المؤلفون: De Michele G., Galatolo D., Galosi S., Mignarri A., Silvestri G., Casali C., Leuzzi V., Ricca I., Barghigiani M., Tessa A., Cioffi E., Caputi C., Riso V., Dotti M. T., Sacca F., Cocozza S., Filla A., Santorelli F. M.
المساهمون: De Michele, G., Galatolo, D., Galosi, S., Mignarri, A., Silvestri, G., Casali, C., Leuzzi, V., Ricca, I., Barghigiani, M., Tessa, A., Cioffi, E., Caputi, C., Riso, V., Dotti, M. T., Sacca, F., Cocozza, S., Filla, A., Santorelli, F. M.
مصطلحات موضوعية: Broadened phenotype, NGS targeted resequencing panel, Novel mutation, PRKCG, Spinocerebellar ataxia type 14
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000675768200002; volume:269; issue:3; firstpage:1476; lastpage:1484; numberofpages:9; journal:JOURNAL OF NEUROLOGY; https://hdl.handle.net/11588/947493Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111109016
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2دورية أكاديمية
المؤلفون: Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, Vincenzo Leuzzi, Carlo Casali, Olimpia Musumeci, Antnella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Caterina Caputi, Ettore Cioffi, Giuseppe De Michele, Maria Teresa Dotti, Tommasina Fico, Chiara Fiorillo, Serena Galosi, Maria Lieto, Alessandro Malandrini, Marina A. B. Melone, Andrea Mignarri, Gemma Natale, Elena Pegoraro, Antonio Petrucci, Ivana Ricca, Vittorio Riso, Salvatore Rossi, Anna Rubegni, Arianna Scarlatti, Francesca Tinelli, Rosanna Trovato, Gioacchino Tedeschi, Alessandra Tessa, Alessandro Filla, Filippo Maria Santorelli
المساهمون: Galatolo, Daniele, De Michele, Giovanna, Silvestri, Gabriella, Leuzzi, Vincenzo, Casali, Carlo, Musumeci, Olimpia, Antenora, Antnella, Astrea, Guja, Barghigiani, Melissa, Battini, Roberta, Battisti, Carla, Caputi, Caterina, Cioffi, Ettore, De Michele, Giuseppe, Teresa Dotti, Maria, Fico, Tommasina, Fiorillo, Chiara, Galosi, Serena, Lieto, Maria, Malandrini, Alessandro, Melone, Marina A. B., Mignarri, Andrea, Natale, Gemma, Pegoraro, Elena, Petrucci, Antonio, Ricca, Ivana, Riso, Vittorio, Rossi, Salvatore, Rubegni, Anna, Scarlatti, Arianna, Tinelli, Francesca, Trovato, Rosanna, Tedeschi, Gioacchino, Tessa, Alessandra, Filla, Alessandro, Maria Santorelli, Filippo
مصطلحات موضوعية: Genesi, HA, TRP, cohort, diagnostic yield, exome sequencing, mutation, next-generation sequencing, targeted resequencing panel, variant, Adolescent, Adult, Aged, 80 and over, Child, Preschool, Female, Genetic Testing, Human, Male, Middle Aged, Spinocerebellar Degeneration, Whole Exome Sequencing, Young Adult, High-Throughput Nucleotide Sequencing
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34445196; info:eu-repo/semantics/altIdentifier/wos/WOS:000690555200001; volume:22; issue:16; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11573/1605451Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111907905
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3دورية أكاديمية
المؤلفون: Galatolo D., De Michele G., Silvestri G., Leuzzi V., Casali C., Musumeci O., Antenora A., Astrea G., Barghigiani M., Battini R., Battisti C., Caputi C., Cioffi E., Dotti M. T., Fico T., Fiorillo C., Galosi S., Lieto M., Malandrini A., Melone M. A. B., Mignarri A., Natale G., Pegoraro E., Petrucci A., Ricca I., Riso V., Rossi S., Rubegni A., Scarlatti A., Tinelli F., Trovato R., Tedeschi G., Tessa A., Filla A., Santorelli F. M.
المساهمون: Galatolo, D., De Michele, G., Silvestri, G., Leuzzi, V., Casali, C., Musumeci, O., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., Battisti, C., Caputi, C., Cioffi, E., Dotti, M. T., Fico, T., Fiorillo, C., Galosi, S., Lieto, M., Malandrini, A., Melone, M. A. B., Mignarri, A., Natale, G., Pegoraro, E., Petrucci, A., Ricca, I., Riso, V., Rossi, S., Rubegni, A., Scarlatti, A., Tinelli, F., Trovato, R., Tedeschi, G., Tessa, A., Filla, A., Santorelli, F. M.
مصطلحات موضوعية: Cohort, Diagnostic yield, Exome sequencing, Genesi, HA, Mutation, Next‐generation sequencing, Targeted resequencing panel, TRP, Variant, Adolescent, Adult, Aged, 80 and over, Child, Preschool, Female, Genetic Testing, Human, Male, Middle Aged, Spinocerebellar Degeneration, Whole Exome Sequencing, Young Adult, High-Throughput Nucleotide Sequencing
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34445196; info:eu-repo/semantics/altIdentifier/wos/WOS:000690555200001; volume:22; issue:16; firstpage:1; lastpage:23; numberofpages:23; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11568/1116302Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111907905
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4دورية أكاديمية
المؤلفون: Silvestri G., Rossi S.
المساهمون: Galatolo, D., De Michele, G., Silvestri, Gabriella, Leuzzi, V., Casali, C., Musumeci, O., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., Battisti, C., Caputi, C., Cioffi, E., Dotti, M. T., Fico, T., Fiorillo, C., Galosi, S., Lieto, M., Malandrini, A., Melone, M. A. B., Mignarri, A., Natale, G., Pegoraro, E., Petrucci, A., Ricca, I., Riso, V., Rossi, Salvatore, Rubegni, A., Scarlatti, A., Tinelli, F., Trovato, R., Tedeschi, G., Tessa, A., Filla, A., Santorelli, F. M.
مصطلحات موضوعية: Cohort, Diagnostic yield, Exome sequencing, Genesis, HA, Mutation, Next‐generation sequencing, Targeted resequencing panel, TRP, Variant, Adolescent, Adult, Aged, 80 and over, Child, Preschool, Female, Genetic Testing, Humans, Male, Middle Aged, Spinocerebellar Degenerations, Whole Exome Sequencing, Young Adult, High-Throughput Nucleotide Sequencing, Settore MED/26 - NEUROLOGIA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34445196; info:eu-repo/semantics/altIdentifier/wos/WOS:000690555200001; volume:22; issue:16; firstpage:8490; lastpage:N/A; issueyear:2021; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/10807/196372Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111907905
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5دورية أكاديمية
المؤلفون: Rossi, Salvatore, Silvestri, Gabriella
المساهمون: Galatolo, Daniele, Trovato, Rosanna, Scarlatti, Arianna, Rossi, Salvatore, Natale, Gemma, De Michele, Giovanna, Barghigiani, Melissa, Cioffi, Ettore, Filla, Alessandro, Bilancieri, Giusi, Casali, Carlo, Santorelli, Filippo M, Silvestri, Gabriella, Tessa, Alessandra
مصطلحات موضوعية: Hereditary spastic paraplegia (HSP), Multigene panel, Next-generation sequencing (NGS), Targeted resequencing panel (TRP), Whole-exome sequencing (WES), Whole-genome sequencing (WGS), Settore MED/26 - NEUROLOGIA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37131039; info:eu-repo/semantics/altIdentifier/wos/WOS:000979214900001; volume:24; issue:3; firstpage:147; lastpage:160; numberofpages:14; issueyear:2023; journal:NEUROGENETICS; https://hdl.handle.net/10807/252997Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85156103220
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6
المؤلفون: Carlo Casali, Giuseppe De Michele, Melissa Barghigiani, Ettore Cioffi, Ivana Ricca, Andrea Mignarri, Vittorio Riso, Giovanna De Michele, Vincenzo Leuzzi, Caterina Caputi, Francesco Saccà, Alessandra Tessa, Alessandro Filla, Maria Teresa Dotti, Sirio Cocozza, Gabriella Silvestri, Daniele Galatolo, Serena Galosi, Filippo M. Santorelli
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Heterozygote, Ataxia, Neurology, Neurological disorder, Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Spinocerebellar Ataxias, Broadened phenotype, Gene, Protein Kinase C, NGS targeted resequencing panel, Novel mutations, PRKCG, Spinocerebellar ataxia type 14, Female, Mutation, Phenotype, Genetics, Episodic ataxia, Master regulator, medicine.disease, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Spinocerebellar ataxia, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c79b511b649f5cbecddd6dd058166e6Test
http://hdl.handle.net/11573/1617399Test -
7
المؤلفون: Guja Astrea, Roberta Battini, Alessandro Filla, Salvatore Rossi, Vittorio Riso, Marina Melone, Gioacchino Tedeschi, Antonella Antenora, Carlo Casali, Rosanna Trovato, Elena Pegoraro, Gabriella Silvestri, Filippo M. Santorelli, Melissa Barghigiani, Antonio Petrucci, Serena Galosi, Tommasina Fico, Andrea Mignarri, Caterina Caputi, Chiara Fiorillo, Maria Lieto, Alessandro Malandrini, Arianna Scarlatti, Maria Teresa Dotti, Olimpia Musumeci, Ettore Cioffi, Ivana Ricca, Gemma Natale, Francesca Tinelli, Giovanna De Michele, Alessandra Tessa, Carla Battisti, Anna Rubegni, Daniele Galatolo, Vincenzo Leuzzi, Giuseppe De Michele
المساهمون: Galatolo, D, De Michele, G, Silvestri, G, Leuzzi, V, Casali, C, Musumeci, O, Antenora, A, Astrea, G, Barghigiani, M, Battini, Roberta, Battisti, C, Caputi, C, Cioffi, E, Dotti, Mt, Fico, T, Fiorillo, C, Galosi, S, Lieto, M, Alessandro Malandrini, A, Melone, Mab, Mignarri, A, Natale, G, Pegoraro, E, Petrucci, A, Ricca, I, Riso, V, Rossi, S, Rubegni, A, Scarlatti, A, Tinelli, F, Trovato, R, Tedeschi, G, Tessa, A, Filla, A and Santorelli FM
المصدر: International Journal of Molecular Sciences
Volume 22
Issue 16
International Journal of Molecular Sciences, Vol 22, Iss 8490, p 8490 (2021)مصطلحات موضوعية: Male, Exome sequencing, HA, Bioinformatics, TRP, Whole Exome Sequencing, Genesi, 80 and over, Medicine, Biology (General), Variant, Child, Genesis, Spectroscopy, Spinocerebellar Degenerations, Aged, 80 and over, Cohort, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Phenotype, Computer Science Applications, Chemistry, Settore MED/26 - NEUROLOGIA, Child, Preschool, Mutation (genetic algorithm), Female, Adult, Diagnostic yield, Mutation, Next‐generation sequencing, Targeted resequencing panel, Adolescent, Aged, Genetic Testing, Humans, Young Adult, QH301-705.5, Article, Catalysis, DNA sequencing, Inorganic Chemistry, Hereditary ataxia, Physical and Theoretical Chemistry, Preschool, QD1-999, cohort, diagnostic yield, exome sequencing, mutation, next-generation sequencing, targeted resequencing panel, variant, Molecular Biology, Gene, business.industry, Organic Chemistry, Etiology, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec9f44e42b5a09a7cec95d783a0577c0Test
http://hdl.handle.net/11577/3398514Test -
8دورية أكاديمية
المؤلفون: Silvestri G.
المساهمون: De Michele, G., Galatolo, D., Galosi, S., Mignarri, A., Silvestri, Gabriella, Casali, C., Leuzzi, V., Ricca, I., Barghigiani, M., Tessa, A., Cioffi, E., Caputi, C., Riso, V., Dotti, M. T., Sacca, F., Cocozza, S., Filla, A., Santorelli, F. M.
مصطلحات موضوعية: Broadened phenotype, NGS targeted resequencing panel, Novel mutations, PRKCG, Spinocerebellar ataxia type 14, Settore MED/26 - NEUROLOGIA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34292398; info:eu-repo/semantics/altIdentifier/wos/WOS:000675768200002; issue:N/A; firstpage:1476; lastpage:1484; numberofpages:9; issueyear:2021; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/10807/182933Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111109016
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9
المصدر: Expert review of molecular diagnostics. 15(1):61-70
مصطلحات موضوعية: STRATEGIES, GENETICS, sequence depth, coverage, EXOME, Computational biology, Biology, Bioinformatics, MOLECULAR DIAGNOSIS, Sensitivity and Specificity, DNA sequencing, DISEASE, Pathology and Forensic Medicine, incidental finding, Databases, Genetic, Humans, Genetic Testing, Molecular Biology, Exome, Exome sequencing, Whole genome sequencing, IDENTIFICATION, MUTATIONS, variant interpretation, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, DILATED CARDIOMYOPATHY, CANCER, Molecular Diagnostic Techniques, Molecular Medicine, INCIDENTAL FINDINGS, DNA diagnostics, next-generation sequencing, hormones, hormone substitutes, and hormone antagonists, targeted resequencing panel
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba03351ef87dbe7791448c9bbb46f09cTest
https://doi.org/10.1586/14737159.2015.976555Test -
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المصدر: Expert review of molecular diagnostics. 15(1):61-70
مصطلحات موضوعية: IDENTIFICATION, STRATEGIES, GENETICS, MUTATIONS, variant interpretation, sequence depth, coverage, EXOME, DILATED CARDIOMYOPATHY, MOLECULAR DIAGNOSIS, CANCER, DISEASE, incidental finding, INCIDENTAL FINDINGS, DNA diagnostics, next-generation sequencing, targeted resequencing panel
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dris___01423::f1840c2365efb387f7ff1e57f9b666d7Test
https://doi.org/10.1586/14737159.2015.976555Test
