BMC Medical Genetics | Home page

BMC Medical Genetics | Home page



BMC Medical Genetics

Articles

• Recent
• Most accessed

1. Content Type:Research Article

     |  4 September 2018

   Clinical and molecular characterization of POU3F4mutations in multiple DFNX2 Chinese families

   Authors:Yu Su, Xue Gao, Sha-Sha Huang, Jing-Ning Mao, Bang-Qing Huang, Jian-Dong Zhao, Dong-Yang Kang, Xin Zhang and Pu Dai
2. Content Type:Case Report

     |  4 September 2018

   Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G

   Authors:Mohammad M. Al-Qattan, Ali Hadadi, Abdullah M. Al-Thunayan, Ahmed A. Eldali and Mohammed A. AlBalwi
3. Content Type:Case Report

     |  31 August 2018

   Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

   Authors:N. Riise, B. R. Lindberg, M. A. Kulseth, S. O. Fredwall, R. Lundby, M.-E. Estensen, L. Drolsum, E. Merckoll, K. Krohg-Sørensen and B. Paus
4. Content Type:Research Article

     |  31 August 2018

   Common FTO rs9939609 variant and risk of type 2 diabetes in Palestine

   Authors:Anas Sabarneh, Suheir Ereqat, Stéphane Cauchi, Omar AbuShamma, Mohammad Abdelhafez, Murad Ibrahim and Abdelmajeed Nasereddin
5. Content Type:Case Report

     |  29 August 2018

   Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report

   Authors:Kye Hee Cho, Sung Han Shim, Youngsoo Jung, Se Ra Sung and MinYoung Kim

Most recent articles RSS

View all articles