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Global Medical Genetics: Issue 1/2024 is ready! 2024-05-12


Global Medical Genetics

Issue 01 · Volume 11 · January 2024


Original Article

Mir, Asif; Kamran, Zainab; Iqbal, Wajid:

Orchestration of Genetic Alterations in PSEN1 and PSEN2 Genes in Development of Alzheimer's Disease through Computational Analysis

Li, Weiran; Lu, Xiaowei; Shu, Jianbo; Cai, Yingzi; Li, Dong; Cai, Chunquan:

Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy

Li, Yang; Sun, Ting; Chen, Jia; Zhang, Lei:

Identification of Novel Risk Variants of Inflammatory Factors Related to Myeloproliferative Neoplasm: A Bidirectional Mendelian Randomization Study

Muñoz-Novas et al.

Association of Cytogenetics Aberrations and IGHV Mutations with Outcome in Chronic Lymphocytic Leukemia Patients in a Real-World Clinical Setting

Mozaffarizadeh et al.

The Relationship between VDR Gene Polymorphisms Bsm1 and Apa1 with Breast Cancer Risk

DiAdamo et al.

Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages

Case Report

Sun, Mei; Li, Qing; Zhang, Ying; Cai, Yingzi; Dong, Yan; Shu, Jianbo; Li, Dong; Cai, Chunquan:

Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome

Zhou, Feiyu; Yi, Gui; Liu, Xiangyu; Sheng, Wenchao; Shu, Jianbo; Li, Dong; Cai, Chunquan:

A Pair of Compound Heterozygous IARS2 Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient

Review Article

Hasan, Rakibul:

The Multifaceted Role of Oxytocinergic System and OXTR Gene

Huang et al.

Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives

10-1055-s-0044-1779469-i2300094-toc.jpg

Zaki et al.

Genetic Modifications of Developmental Dyslexia and Its Representation Using In Vivo, In Vitro Model

Xu et al.

Expert Consensus on the Diagnosis and Treatment of NRG1/2 Gene Fusion Solid Tumors

Kelkar, Janhawi; DiMaio, Miriam; Ma, Deqiong; Zhang, Hui:

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature

Kolanu, Nikhil Deep:

CRISPR–Cas9 Gene Editing: Curing Genetic Diseases by Inherited Epigenetic Modifications

Short Communication

Kanduc, Darja:

On the Pentapeptide as the Measurement Unit in Immunology

Global Medical Genetics天津市血液与再生医学学会官方期刊。中国医学科学院血液病医院、中国医学科学院血液学研究所副书记张磊教授任本刊主编。众多国内知名专家学者深度参与,另外还有来自美国、加拿大、德国、法国、瑞典、荷兰、西班牙和澳大利亚等十余个国家和地区的60余位专家学者,组成高水平、国际化的编辑委员会,国际编委比例超过50%。

Global Medical Genetics是开放获取国际期刊,致力于出版遗传学领域的同行评审、高质量、原创论文。现已被ESCI, PubMed, PubMed Central, DOAJ, EBSCO, ProQuest等多个世界知名数据库收录。

本刊出版的论文类型包括原创研究、综述、社论、信件和会议报告。涵盖有关遗传学所有主题的论文,包括:

  • 与人类疾病病理相关的基因研究

  • 简单和复杂遗传性状的分子分析

  • 癌症遗传学

  • 表观遗传学

  • 基因治疗

  • 发育遗传学

  • 基因表达调控

  • 从基因组数据中提取功能的策略和技术

  • 药理学基因组学

  • 基因组进化

本刊由天津医大期刊发行有限公司在中国大陆地区发行纸本。