期刊信息
| BMC Medical Genetics | |
| 印刷版ISSN： | 1471-2350 |
| 出版者： | BioMed Central Ltd. |
| 国家： | United Kingdom |
| 状态： | Active |
| 创刊年： | 2000 (Nov.) |
| 周期： | Irregular |
| 类型： | Journal; Academic/Scholarly |
| 语种： | Text in English |
| 学科： | BIOLOGY - GENETICS; MEDICAL SCIENCES |
| 期刊URL： | 链接地址 |
| 同行评议： | 是 |
| 来源： | EBSCOASP |
| 中图分类号： | 医学、卫生 |
| 收录机构： | SCI SCI |
《BMC Medical Genetics》
| 刊内检索 |
| 1. microRNA-27a rs895819 is associated with obesity in HIV infected preeclamptic Black South African women on HAART. |
| [外文期刊] 刊名:《BMC medical genetics》 2016 , Volume , Number 作者:Maharaj, Niren Ray | |
| Background: Preeclampsia (PE) and HIV/AIDS present a major health challenge globally. South Africa h |
| 2. Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly. |
| [外文期刊] 刊名:《BMC medical genetics》 2016 , Volume , Number 作者:Xingping Guo | |
| Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disea |
| 3. Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract. |
| [外文期刊] 刊名:《BMC medical genetics》 2016 , Volume , Number 作者:Happ, Hannah | |
| Background: Congenital cataracts affect 3�C6 per 10,000 live births and represent one of the leading |
| 4. Effect of Pregnane X Receptor*1B genetic polymorphisms on postoperative analgesia with fentanyl in Chinese patients undergoing gynecological surgery. |
| [外文期刊] 刊名:《BMC medical genetics》 2016 , Volume , Number 作者:Jing-Jing Yuan | |
| Background: The purpose of the study was to investigate the effects of the pregnane X receptor (PXR) |
| 5. Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm. |
| [外文期刊] 刊名:《BMC medical genetics》 2016 , Volume , Number 作者:Tie Ke | |
| Background: Aortic aneurysms and/or dissection (AADs) in the aorta are a leading cause of human morb |
| 6. Association of common variants identified by recent genome-wide association studies with obesity in Chinese children: a case-control study |
| [外文期刊] 刊名:《BMC Medical Genetics》 2016 , Volume , Number 1 作者:Hai-Jun Wang | |
| Background Large-scale genome-wide association studies have identified multiple genetic variants tha |
| 7. NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study |
| [外文期刊] 刊名:《BMC Medical Genetics》 2016 , Volume , Number 1 作者:Wei Wen | |
| Background Argininosuccinic aciduria (ASAuria; OMIM 207900) is a rare autosomal recessive heterogene |
| 8. Annual acknowledgement of reviewers |
| [外文期刊] 刊名:《BMC Medical Genetics》 2016 , Volume , Number 1 作者:Timothy R. Sands | |
| Contributing reviewers The editors of BMC Medical Genetics would like to thank all our reviewers who |
| 9. Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans |
| [外文期刊] 刊名:《BMC Medical Genetics》 2016 , Volume , Number 1 作者:Nari Ryu | |
| Background One of the causes of sensorineural hearing loss (SNHL) is degeneration of the inner hair |
| 10. Association of BAK1 single nucleotide polymorphism with a risk for dengue hemorrhagic fever. |
| [外文期刊] 刊名:《BMC medical genetics》 2016 , Volume , Number 作者:Tran Ngoc, Dang | |
| Dengue hemorrhagic fever (DHF) is a severe life-threatening form of dengue infection. Low platelet c |