日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Transcriptome Study in Sicilian Patients with Huntington's Disease

西西里岛亨廷顿病患者的转录组研究

期刊:Diagnostics
影响因子:3.3
doi:10.3390/diagnostics15040409
Salemi, Michele; Di Stefano, Vincenzo; Schillaci, Francesca A; Marchese, Giovanna; Salluzzo, Maria Grazia; Cordella, Angela; De Leo, Ilenia; Perrotta, Concetta Simona; Nibali, Giuseppe; Lanza, Giuseppe; Ferri, Raffaele
发表日期：2025
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Dysregulation of miRNAs in Sicilian Patients with Huntington's Disease

西西里岛亨廷顿病患者miRNA表达失调

期刊:Diagnostics
影响因子:3.3
doi:10.3390/diagnostics15192454
Salemi, Michele; Schillaci, Francesca Antonia; Salluzzo, Maria Grazia; Marchese, Giovanna; Ventola, Giovanna Maria; Perrotta, Concetta Simona; Di Stefano, Vincenzo; Lanza, Giuseppe; Ferri, Raffaele
miRNA
发表日期：2025
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Oxford Hip and Shoulder Scores as Potential Tools for the Early Detection of Avascular Necrosis in Apparently Unaffected Sites in Sickle Cell Disease: Results from a Prospective Cohort Study

牛津髋关节和肩关节评分作为镰状细胞病患者在看似未受累部位早期检测股骨头坏死的潜在工具：一项前瞻性队列研究的结果

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm14165744
Casale, Maddalena; Toro, Giuseppe; Porcelli, Federica; Spadola, Vincenzo; Rosso, Rosamaria; Bulla, Anna; Quota, Alessandra; Perrotta, Concetta Simona; Campisi, Saveria; Arcioni, Francesco; Marrapodi, Maria Maddalena; Perrotta, Silverio
细胞生物学
发表日期：2025
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Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment

在一名肌张力低下、智力障碍和严重言语障碍患者中鉴定出一种新的FOXP1变异体

期刊:Genes
影响因子:2.8
doi:10.3390/genes14101958
Benvenuto, Mario; Palumbo, Pietro; Di Muro, Ester; Perrotta, Concetta Simona; Mazza, Tommaso; Mandarà, Giuseppa Maria Luana; Palumbo, Orazio; Carella, Massimo
FOXP1
发表日期：2023
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Robin D Clark & Cynthia J Curry: Genetic Consultations in the Newborn: Oxford University Press, ISBN no.: 978-0-1999-9099-3 Price: Hardback: £65.00/$99.95

Robin D Clark 和 Cynthia J Curry：《新生儿遗传咨询》：牛津大学出版社，ISBN 编号：978-0-1999-9099-3，精装本价格：65.00 英镑/99.95 美元

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-022-01206-7
McNeill, Alisdair; Perrotta, Concetta Simona
发表日期：2020
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Jacobsen syndrome

雅各布森综合征

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/1750-1172-4-9
Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul
发表日期：2009
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