Molecular Syndromology

SCI期刊
Molecular Syndromology
中文名称:
分子综合症学
期刊缩写:
MOL SYNDROMOL
影响因子:
0.9
ISSN:
print: 1661-8769
on-line: 1661-8777
研究领域:
Biochemistry, Genetics and Molecular Biology-Genetics
自引率:
9.10%
Gold OA文章占比:
8.00%
原创研究文献占比:
81.82%
SCI收录类型:
Science Citation Index Expanded (SCIE) || Scopus (CiteScore)
期刊介绍英文:
''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.
CiteScore:
CiteScoreSJRSNIPCiteScore排名
1.70.3850.429
学科
排名
百分位
大类:Medicine
小类:Genetics (clinical)
80 / 99
19%
大类:Biochemistry, Genetics and Molecular Biology
小类:Genetics
297 / 347
14%
发文信息
中科院SCI期刊分区
大类 小类 TOP期刊 综述期刊
4区 医学
4区 遗传学 GENETICS & HEREDITY
WOS期刊分区
学科分类
Q4GENETICS & HEREDITY
历年影响因子
2019年1.1980
2020年1.6310
2021年1.4940
2022年1.1000
2023年0.9000
历年发表
2012年66
2013年49
2014年39
2015年49
2016年63
2017年47
2018年54
2019年40
2020年54
2021年70
2022年67
投稿信息
出版语言:
English
出版国家(地区):
SWITZERLAND
出版商:
Karger
编辑部地址:
ALLSCHWILERSTRASSE 10, BASEL, SWITZERLAND, CH-4009

Molecular Syndromology - 最新文献

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.

Pub Date : 2024-10-01 DOI: 10.1159/000538676 Burhanettin Yalçınkaya, Kübra Adanur Sağlam, Kerem Terali, Emine Tekin, Hava Taslak, Ayberk Türkyılmaz

Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene

Pub Date : 2024-08-08 DOI: 10.1159/000540088 Athanasios Gatsis, Maria Alvanou, Elisavet Christidou, E. Demertzidou, Aggeliki Kontou, T. Stathopoulou, K. Sarafidis, Alexandros Sotiriadis, A. Ververi

Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

Pub Date : 2024-08-01 DOI: 10.1159/000536295 Çiğdem Seher Kasapkara, Oya Kıreker Köylü, Ayşenur Engin Erdal, Burak Yürek, Nesrin Ceylan, Serdar Ceylaner
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