中文简介

美国医学遗传学杂志- A部分(AJMG)为您提供了遗传疾病和出生缺陷的所有生物学和医学方面的连续报道，以及在当前的基因型/表型相关性背景下的表型分析的深入文档。除了A部分，AJMG还发布了另外两个部分:第二部分:神经精神病学遗传学，包括神经和精神疾病的遗传机制的实验和临床研究。第三部分:医学遗传学研讨会，AJMG读者感兴趣的专题评论的客座编辑合集。作为医生、医学遗传学家和相关专业人士的重要资源，该杂志的主要目的是报告以下领域的原始研究:生化遗传学:新生儿筛查、载体检测、代谢异常及畸形综合征;癌症遗传学和癌症细胞遗传学:实验和分子方法;临床遗传学:对新证候的描述，对已知证候的新的因果和致病见解，遗传咨询、nosology、人体测量学和人类学(包括皮纹学)方面的进展;临床分子遗传学:连锁、定位和基因测序;形式遗传学:数量遗传学、人口遗传学和流行病学遗传学;分子细胞遗传学:染色体畸变综合征的描述神经精神病学遗传学:关于精神病学和神经系统疾病遗传机制的新研究报告;生殖遗传学:产前诊断和遗传学的产前和围产期死亡的人。AJMG还报道了人类遗传疾病的动物模型、伦理、法律和社会问题、胎儿遗传病理学和畸形学、遗传漂移、医学遗传学的历史方面以及对双胞胎和孪生儿的研究。该杂志通过强调对表型和自然历史条件的详细记录，着重于围绕仔细的表型分析的主题。除了研究文章，杂志的常规特征还包括临床报告、社论、快速出版物和给编辑的信件。

投稿网址：https://mc.manuscriptcentral.com/ajmg-a

英文简介

The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .As a crucial resource to physicians, medical geneticists and associated professionals, the Journal's primary purpose is to report original research in the following areas:Biochemical Genetics : newborn screening, carrier detection, and the metabolic dysplasia and malformation syndromes;Cancer Genetics and Cancer Cytogenetics : experimental and molecular approaches;Clinical Genetics : descriptions of new syndromes, new causal and pathogenetic insights into known syndromes, advances in genetic counseling, nosology, anthropometry, and anthropology, including dermatoglyphics;Clinical Molecular Genetics : linkage, mapping, and gene sequencing;Formal Genetics : quantitative, population, and epidemiological genetics;Molecular Cytogenetics : delineation of syndromes due to chromosomal aberration;Neuropsychiatric Genetics : reports on novel research on the genetic mechanisms underlying psychiatric and neurological disorders;Reproductive Genetics : prenatal diagnosis and the genetics of prenatal and perinatal death in humans.AJMG also reports on animal models of human genetic disorders, ethical, legal and social issues, fetal genetic pathology and teratology, genetic drift, historical aspects of medical genetics, and studies of twins and twinning. The Journal focuses on the themes surrounding careful phenotype analysis by emphasizing meticulous documentation of phenotype and natural history of conditions. In addition to research articles, regular features of the Journal include clinical reports, editorials, rapid publications, and letters to the editor.