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BMC Medical Genetics

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1. Content Type:Case Report

     |  3 January 2019

   Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients

   Authors:Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki and Bartosz Wasag
2. Content Type:Research

     |  31 December 2018

   Integrated molecular characterization of adult soft tissue sarcoma for therapeutic targets

   Authors:Jihyun Kim, June Hyuk Kim, Hyun Guy Kang, Seog Yun Park, Jung Yeon Yu, Eun Young Lee, Sung Eun Oh, Young Ho Kim, Tak Yun, Charny Park, Soo Young Cho and Hye Jin You
3. Content Type:Research

     |  31 December 2018

   Parkinson’s disease and Alzheimer’s disease: a Mendelian randomization study

   Authors:Zhifa Han, Rui Tian, Peng Ren, Wenyang Zhou, Pingping Wang, Meng Luo, Shuilin Jin and Qinghua Jiang
4. Content Type:Research

     |  31 December 2018

   A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom

   Authors:Yi-Kun Zhou, Xiao-Chun Yang, Yang Cao, Heng Su, Li Liu, Zhi Liang and Yun Zheng
5. Content Type:Research Article

     |  27 December 2018

   Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease

   Authors:Chi Zhou, Jin Huang, Guanglin Cui, Hesong Zeng, Dao Wen Wang and Qiang Zhou

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