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BMC Medical Genetics

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1. Content Type:Research Article

     |  18 September 2019

   Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1

   Authors:Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan and Renbing Jia
2. Content Type:Case Report

     |  12 September 2019

   Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report

   Authors:Mingming Li, Wei Chen, Xiaomeng Sun, Zhipeng Wang, Xun Zou, Hua Wei, Zhan Wang and Wansheng Chen
3. Content Type:Research Article

     |  11 September 2019

   Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

   Authors:Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon and Jisnuson Svasti
4. Content Type:Research Article

     |  11 September 2019

   Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke

   Authors:Yuan Wu, Junjie Zhao, Yonglin Zhao, Tingqin Huang, Xudong Ma, Honggang Pang and Ming Zhang
5. Content Type:Research Article

     |  5 September 2019

   BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center

   Authors:Chantal Farra, Christelle Dagher, Lama Hamadeh, Nagi El Saghir and Deborah Mukherji