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. Cardiac manifestations of PRKAG2 mutation |
| [外文期刊] 刊名:《BMC Medical Genetics》 2018 , Volume 19 , Number 1 作者:Pooya Banankhah | |
| Abstract Background The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac |
| 2. Bilateral giant retinal tears in Osteogenesis Imperfecta |
| [外文期刊] 刊名:《BMC Medical Genetics》 2018 , Volume 19 , Number 1 作者:Paolo Scollo | |
| Abstract Background Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in |
| 3. De novo mutations in SCN1A are associated with classic Rett syndrome: a case report |
| [外文期刊] 刊名:《BMC Medical Genetics》 2018 , Volume , Number 作者:Mari Wold Henriksen | |
| Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of female |
| 4. Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease |
| [外文期刊] 刊名:《BMC Medical Genetics》 2018 , Volume , Number 作者:Anna Caciotti | |
| Abstract Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which t |
| 5. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature |
| [外文期刊] 刊名:《BMC Medical Genetics》 2018 , Volume 19 , Number 1 作者:Siying Lin | |
| Abstract Background Autosomal recessive anophthalmia and microphthalmia are rare developmental eye d |
| 6. GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report |
| [外文期刊] 刊名:《BMC Medical Genetics》 2018 , Volume 19 , Number 1 作者:Chi-Chun Ho | |
| Abstract Background Mucolipidosis alpha/beta is an inborn error of metabolism characterized by defic |
| 7. An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome. |
| [外文期刊] 刊名:《BMC medical genetics》 2018 , Volume 19 , Number 1 作者:Jiayan, Fan | |
| FGFR2 encodes a fibroblast growth factor receptor whose mutations are responsible for the Crouzon sy |
| 8. Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases. |
| [外文期刊] 刊名:《BMC medical genetics》 2018 , Volume 19 , Number 1 作者:Morgane, Plutino | |
| Since the advent of next generation sequencing (NGS), several studies have tried to evaluate the rel |
| 9. Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents. |
| [外文期刊] 刊名:《BMC medical genetics》 2018 , Volume 19 , Number 1 作者:Osmar Henrique, Della Torre | |
| Dopamine is involved in several cerebral physiological processes, and single nucleotide polymorphism |
| 10. Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children. |
| [外文期刊] 刊名:《BMC medical genetics》 2018 , Volume 19 , Number 1 作者:Dandan, Xu | |
| Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotype |