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BMC Medical Genetics

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1. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

   Authors:Carla Caffarelli, Stefano Gonnelli, Maria Dea Tomai Pitinca, Silvia Camarri, Antonella Al Refaie, Joussef Hayek and Ranuccio Nuti

   Content type:Research article

   31 January 2020

2. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

   Authors:Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit and Ahmed Bilal Waqar

   Content type:Research article

   31 January 2020

3. DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

   Authors:Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö and Juha W. Koskenvuo

   Content type:Research article

   31 January 2020

4. Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report

   Authors:Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do and Minh-Tuan Huynh

   Content type:Case report

   30 January 2020

5. Relationship between vascular endothelial growth factor -2578C > a gene polymorphism and lung cancer risk: a meta-analysis

   Authors:Hui-liu Zhao, Jia-hua Yu, Ling-sha Huang, Pei-zhang Li, Ming Lao, Bo Zhu and Chao Ou

   Content type:Research article

   29 January 2020