BMC Medical Genetics | Home page

BMC Medical Genetics | Home page

BMC Medical Genetics

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1. Content Type:Case Report

     |  4 June 2019

   Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

   Authors:Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri and Florence Roucher-Boulez
2. Content Type:Research Article

     |  4 June 2019

   Association of a genetic variant in the angiopoietin-like protein 4 gene with metabolic syndrome

   Authors:Sara Kharazmi-Khorassani, Jasmin Kharazmi-Khorassani, Azam Rastegar-Moghadam, Sara Samadi, Hamideh Ghazizadeh, Maryam Tayefi, Gordon A. Ferns, Majid Ghayour-Mobarhan, Amir Avan and Habibollah Esmaily
3. Content Type:Research Article

     |  31 May 2019

   Interpreting the MicroRNA-15/107 family: interaction identification by combining network based and experiment supported approach

   Authors:Si Wang, Wenhua Zhu, Jing Xu, Yuanxu Guo, Jidong Yan, Liesu Meng, Congshan Jiang and Shemin Lu
4. Content Type:Case Report

     |  31 May 2019

   Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations

   Authors:Yue T. K. Yuen, Ilaria Guella, Elke Roland, Michael Sargent and Cyrus Boelman
5. Content Type:Research Article

     |  30 May 2019

   Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants

   Authors:Xiang Chen, Kai Yan, Yanyan Gao, Huijun Wang, Guoqiang Chen, Bingbing Wu, Qian Qin, Lin Yang and Wenhao Zhou