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Annarita Giliberti

University of L'Aquila
H指数:20
被引数:2,973

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Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype

TSPEAR相关疾病患者的基因型与表型:以牙科表型为主的证据

2025-11-010
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CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

CDK13相关疾病:来自27例病例系列的新见解及临床管理建议

2025-02-190
OAAI
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot (FEB, 10.1038/s41431-020-0624-x, 2023)
2023-02-031
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Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19
2022-05-292
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Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (vol 11, 649435, 2021)
2021-08-171
OAAI
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants
2021-06-1520
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Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes
2021-05-0713
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Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
2021-03-0146
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ACE2gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
2020-07-17176
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AAV-mediated FOXG1 gene editing in human Rett primary cells
2020-06-1511
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New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
2019-11-2133
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