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Verdiana Pullano

Department of Neuroscience Rita Levi Montalcini
H指数:6
被引数:153

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The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade

神经WES项目:十年间对神经发育障碍进行综合表型分析和遗传分析的经验总结

2026-07-080
OAAI
Utility of combined CD39/CD73/CD38 expression for the detection of malignant T cells in Sézary syndrome

联合CD39/CD73/CD38表达在Sézary综合征中恶性T细胞检测中的应用

2026-05-250
OA
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

DDX53的遗传变异导致与Xp22.11基因座相关的自闭症谱系障碍

2025-01-010
PRE
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
2024-07-010
OAAI
Identification of the DNA methylation signature of Mowat-Wilson syndrome
2024-02-132
OAAI
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

在未解决的神经发育疾病病例中偏斜的X染色体失活可以指导对X连锁基因的重新评估

2023-03-0614
OA
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
2023-02-017
OAAI