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. A case–control study of selenoprotein genes polymorphisms and autoimmune thyroid diseases in a Chinese population |
| [外文期刊] 刊名:《BMC Medical Genetics》 2017 , Volume 18 , Number 1 作者:Ling Xiao | |
| Abstract Background Selenium is an essential trace and there is a high selenium concentration in the |
| [外文期刊] 刊名:《BMC Medical Genetics》 2017 , Volume 18 , Number 1 作者:Darina Prchalova | |
| Abstract Background Whole exome sequencing is a powerful tool for the analysis of genetically hetero |
| 3. Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review |
| [外文期刊] 刊名:《BMC Medical Genetics》 2017 , Volume 18 , Number 1 作者:Li Tan | |
| Abstract Background Microcephaly is a disorder characterized by severe impairment in brain developme |
| 4. Exploring digenic inheritance in arrhythmogenic cardiomyopathy |
| [外文期刊] 刊名:《BMC Medical Genetics》 2017 , Volume 18 , Number 1 作者:Eva K?nig | |
| Abstract Background Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characteri |
| 5. Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD). |
| [外文期刊] 刊名:《BMC medical genetics》 2017 , Volume 18 , Number 作者:Ramchander, N. C. | |
| Background: Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance o |
| 6. NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. |
| [外文期刊] 刊名:《BMC medical genetics》 2017 , Volume 18 , Number 作者:Elsaid, Mahmoud F. | |
| Background: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegener |
| 7. De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report |
| [外文期刊] 刊名:《BMC Medical Genetics》 2017 , Volume , Number 作者:Muna A. Al Dhaibani | |
| Abstract Background Studying human genome using chromosomal microarrays has significantly improved t |
| 8. Sustained endocrine profiles of a girl with WAGR syndrome |
| [外文期刊] 刊名:《BMC Medical Genetics》 2017 , Volume , Number 作者:Yui Takada | |
| Abstract Background Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syn |
| 9. No association between the progesterone receptor gene polymorphism (+331G/a) and the risk of breast cancer: an updated meta-analysis |
| [外文期刊] 刊名:《BMC Medical Genetics》 2017 , Volume 18 , Number 1 作者:Xing-ling Qi | |
| Abstract Background Many published studies have estimated the association between the +331G/A (rs108 |
| 10. Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation |
| [外文期刊] 刊名:《BMC Medical Genetics》 2017 , Volume 18 , Number 1 作者:Paulo Breno Noronha Liberalesso | |
| Abstract Background Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterize |