Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease

IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2023-08-18 DOI:10.1159/000531668
Burcu Civelek Ürey, Ahmet Cevdet Ceylan, Büşranur Cavdarlı, Ayşegül Neşe Çıtak Kurt, Oya Kıreker Köylü, Burak Yürek, Çiğdem Seher Kasapkara
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sdha相关线粒体疾病患者的实验室和基因型关系
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来源期刊
Molecular Syndromology
Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.70
自引率
9.10%
发文量
67
期刊介绍: ''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.
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