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BMC Medical Genetics

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1. Content Type:Research Article

     |  8 January 2019

   Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

   Authors:Ana Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, Lorena Suarez-Artiles and Felix Claverie-Martin
2. Content Type:Research Article

     |  7 January 2019

   A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

   Authors:Junjue Chen, Yan Wei, Linlu Tian and Xiaoli Kang
3. Content Type:Research Article

     |  7 January 2019

   Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome

   Authors:Michele Salemi, Rossella Cannarella, Rosita A. Condorelli, Laura Cimino, Federico Ridolfo, Giorgio Giurato, Corrado Romano, Sandro La Vignera and Aldo E. Calogero
4. Content Type:Research Article

     |  6 January 2019

   A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism

   Authors:Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai and David S. Cram
5. Content Type:Research Article

     |  5 January 2019

   Factor-V Leiden G1691A and prothrombin G20210A polymorphisms in Sudanese women with preeclampsia, a case -control study

   Authors:Nadir A. Ahmed, Ishag Adam, Salah Eldin G. Elzaki, Hiba A. Awooda and Hamdan Z. Hamdan

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