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

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions

开发 Del2Phen：一种用于染色体缺失的新型表型描述工具

期刊:Human Mutation
影响因子:3.7
doi:10.1155/humu/5239482
Rraku, Eleana; Medina, Tyler D; van Ravenswaaij-Arts, Conny M A; Slofstra, Mariska K; Swertz, Morris A; Dijkhuizen, Trijnie; Johansson, Lennart F; Engwerda, Aafke
发表日期：2026
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Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

通过在线问卷收集的父母报告的6号染色体异常表型数据：数据一致性和数据可用性

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02657-x
Engwerda, Aafke; Frentz, Barbara; Rraku, Eleana; de Souza, Nadia F Simoes; Swertz, Morris A; Plantinga, Mirjam; Kerstjens-Frederikse, Wilhelmina S; Ranchor, Adelita V; van Ravenswaaij-Arts, Conny M A
发表日期：2023
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The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

基于社交媒体队列和文献综述的末端和亚末端6p缺失的表型谱

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02670-0
Rraku, Eleana; Kerstjens-Frederikse, Wilhelmina S; Swertz, Morris A; Dijkhuizen, Trijnie; van Ravenswaaij-Arts, Conny M A; Engwerda, Aafke
发表日期：2023
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