European Journal of Medical Genetics

简称 EUR J MED GENET ·NETHERLANDS ·出版周期 Quarterly ·年均收录 111 篇

1.7

最新影响因子

2.90%

自引率

容易

投稿难度

偏慢,4-8周

审稿周期

期刊简介

European Journal of Medical Genetics的ISSN号为1769-7212，由Elsevier出版，出版地为荷兰，出版周期为月刊。该杂志的影响因子根据年份有所不同，最新数据需查询官方来源，目前被SCI收录，中科院分区情况需参考最新分区表。杂志为非开放获取（非OA），专注于医学遗传学领域的研究，包括人类遗传疾病的分子机制、临床遗传学、基因组学及相关技术应用。其发文特点为强调原创研究和综述，涵盖基础与临床结合的遗传学内容。杂志质量较高，审稿严格，但需注意其影响因子波动可能反映竞争激烈的领域特点，投稿前建议确认最新投稿指南和审稿周期。

影响因子趋势

近期发表

Neurofibromatosis 1 (NF1) gene testing reveals rising variant allele fraction as an early warning sign of juvenile myelomonocytic leukemia 2026-09-11

Long-term impact of FN1-related spondylometaphyseal dysplasia, corner fracture type (SMD-CF) 2026-09-07

Smith-Kingsmore syndrome associated neurovascular complications and stroke: report of two cases 2026-07-16

Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability 2026-07-29

Spontaneous splenic rupture and uterine serosal bleeding at 26 Weeks in COL3A1-related vascular Ehlers–Danlos syndrome 2026-08-26

Developing consensus on rare disease care pathways and ERN integration across Europe: insights from stakeholder workshops and a Delphi study 2026-08-06

Rapidly progressive vasculopathy in an infantile-onset fibromuscular dysplasia 2026-08-04

Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature 2026-07-15

Neurofibromatosis type 1 in Brazil: Pediatric care in the Unified Health System 2026-08-04

Cytogenetics of Shwachman Diamond syndrome: 27 years report of the Italian cohort and review of the literature 2026-07-24