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BMC Medical Genetics

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1. A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family

   Authors:Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao, Baijun Xu, Kexian Dong, Hanfei Yu, Xuguang Hao, Yan Xue, Shuhan Si, Xueyuan Jia, Jie Wu, Xuelong Zhang, Rongwei Guan…

   Content type:Research article

   23 December 2019

2. POLE mutations improve the prognosis of endometrial cancer via regulating cellular metabolism through AMF/AMFR signal transduction

   Authors:Yiran Li, Yiding Bian, Kai Wang and Xiao-Ping Wan

   Content type:Research article

   21 December 2019

3. Vitamin D receptor ApaI polymorphism associated with progression of liver disease in Vietnamese patients chronically infected with hepatitis B virus

   Authors:Nghiem Xuan Hoan, Nguyen Khuyen, Dao Phuong Giang, Mai Thanh Binh, Nguyen Linh Toan, Do Tuan Anh, Ngo Tat Trung, Mai Hong Bang, Christian G. Meyer, Thirumalaisamy P. Velavan and Le Huu Song

   Content type:Research article

   21 December 2019

4. Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia

   Authors:Lingchi Kong, Li Shi, Wenbo Wang, Rongtai Zuo, Mengwei Wang and Qinglin Kang

   Content type:Research article

   19 December 2019

5. Broadening the phenotype of the TWNK gene associated Perrault syndrome

   Authors:Bálint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos and Maria Judit Molnar

   Content type:Case report

   18 December 2019