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 report of NPHP1 deletion in Chinese twins with nephronophthisis. |
| [外文期刊] 刊名:《BMC medical genetics》 2020 , Volume 21 , Number 1 作者:Feng,Chen | |
| Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. Th |
| 2. Assessment of cellular cobalamin metabolism in Gaucher disease. |
| [外文期刊] 刊名:《BMC medical genetics》 2020 , Volume 21 , Number 1 作者:Suelen Porto,Basgalupp | |
| Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 ge |
| 3. Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report. |
| [外文期刊] 刊名:《BMC medical genetics》 2020 , Volume 21 , Number 1 作者:Maryam,Sobhani | |
| Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessiv |
| 4. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. |
| [外文期刊] 刊名:《BMC medical genetics》 2020 , Volume 21 , Number 1 作者:Jeevana Praharsha,Athota | |
| Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mu |
| 5. Analysis on the polymorphisms of site RS4977574, and RS1333045 in region 9p21 and the susceptibility of coronary heart disease in Chinese population. |
| [外文期刊] 刊名:《BMC medical genetics》 2020 , Volume 21 , Number 1 作者:Lei,Hua | |
| Rs4977574 (A > G) and Rs1333045 (C > T) are both single nucleotide polymorphisms (SNPs) related with |
| 6. Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease. |
| [外文期刊] 刊名:《BMC medical genetics》 2020 , Volume 21 , Number 1 作者:Xiaoli,Li | |
| Familial benign chronic pemphigus, also known as Hailey-Hailey disease (HHD), is a clinically rare b |
| 7. Correction to: Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report. |
| [外文期刊] 刊名:《BMC medical genetics》 2020 , Volume 21 , Number 1 作者:Maryam,Sobhani | |
| Following publication of the original article [1], the authors flagged that the name of 'Asal Hojjat |
| 8. Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review. |
| [外文期刊] 刊名:《BMC medical genetics》 2020 , Volume 21 , Number 1 作者:Dan-Dan,Wang | |
| Stickler syndrome is the most common genetic cause of rhegmatogenous retinal detachment (RRD) in chi |
| 9. Association between lipoprotein(a) (Lp(a)) levels and Lp(a) genetic variants with coronary artery calcification. |
| [外文期刊] 刊名:《BMC medical genetics》 2020 , Volume 21 , Number 1 作者:Sonali,Pechlivanis | |
| To examine the association between lipoprotein(a) (Lp(a)) levels, LPA (rs10455872 and rs3798220) and |
| 10. Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families. |
| [外文期刊] 刊名:《BMC medical genetics》 2020 , Volume 21 , Number 1 作者:Yingjie,Zhou | |
| Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. |