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BMC Medical Genetics

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1. Content Type:Case Report

     |  13 November 2018

   A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report

   Authors:Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao and Yuan Gao
2. Content Type:Case Report

     |  13 November 2018

   De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

   Authors:Chrystal F. Mavros, Catherine A. Brownstein, Roshni Thyagrajan, Casie A. Genetti, Sahil Tembulkar, Kelsey Graber, Quinn Murphy, Kristin Cabral, Grace E. VanNoy, Matthew Bainbridge, Jiahai Shi, Pankaj B. Agrawal, Alan H. Beggs, Eugene D’Angelo and Joseph Gonzalez-Heydrich
3. Content Type:Research Article

     |  12 November 2018

   Expanding the clinical phenotype of IARS2-related mitochondrial disease

   Authors:Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti…
4. Content Type:Research Article

     |  12 November 2018

   Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

   Authors:Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar and David Keegan
5. Content Type:Research Article

     |  9 November 2018

   ENHO, RXRA, and LXRA polymorphisms and dyslipidaemia, related comorbidities and survival in haemodialysis patients

   Authors:Alicja E. Grzegorzewska, Leszek Niepolski, Monika K. Świderska, Adrianna Mostowska, Ireneusz Stolarek, Wojciech Warchoł, Marek Figlerowicz and Paweł P. Jagodziński

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