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BMC Medical Genetics | Home page

BMC Medical Genetics

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1. Content Type:Research Article

     |  10 May 2019

   Associations between XRCC3 Thr241Met polymorphisms and breast cancer risk: systematic-review and meta-analysis of 55 case-control studies

   Authors:Sepideh Dashti, Zahra Taherian-Esfahani, Abbasali Keshtkar and Soudeh Ghafouri-Fard
2. Content Type:Case Report

     |  8 May 2019

   A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

   Authors:Jean Mamelona, Louisa Filice, Youcef Oussedik, Nicolas Crapoulet, Rodney J. Ouellette and Alier Marrero
3. Content Type:Case Report

     |  7 May 2019

   VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

   Authors:Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta and Stefano Sotgiu
4. Content Type:Case Report

     |  7 May 2019

   A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin

   Authors:Kaili Shi, Zhen Shi, Huifang Yan, Xiaodong Wang, Yanling Yang, Hui Xiong, Qiang Gu, Ye Wu, Yuwu Jiang and Jingmin Wang
5. Content Type:Case Report

     |  7 May 2019

   BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature

   Authors:Mir Ali, Celia Dawn Delozier and Uzair Chaudhary