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C

Carolina Sismani

the cyprus institute of neurology and genetics
H指数:22
被引数:1,691

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Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing

通过全外显子测序发现先天性及/或发育异常患者的致病性遗传变异

Genes
IF2.8
2026-07-260
OAAI
Investigating the “Dark” Genome: First Report of Partington Syndrome in Cyprus

研究“暗”基因组:塞浦路斯首例Partington综合征报告

2025-10-150
OAAI
Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing

流产妊娠中的胎儿遗传因素:来自一项Meta分析的研究见解与全外显子组测序的有效性

2025-02-250
OA
De novo unbalanced translocations have a complex history/aetiology
2018-10-0120
OAAI