BMC Medical Genetics | Home page

BMC Medical Genetics | Home page

BMC Medical Genetics

Articles

• Recent
• Most accessed

1. Content Type:Research Article

     |  14 January 2019

   A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia

   Authors:Ceren Saygı, Yasemin Alanay, Uğur Sezerman, Aslı Yenenler and Nesrin Özören
2. Content Type:Research Article

     |  14 January 2019

   Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

   Authors:Chao Ling, Ruifang Sui, Fengxia Yao, Zhihong Wu, Xue Zhang and Shuyang Zhang
3. Content Type:Case Report

     |  14 January 2019

   Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

   Authors:Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius…
4. Content Type:Case Report

     |  14 January 2019

   A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report

   Authors:Fateme Ziyaee, Eslam Shorafa, Hassan Dastsooz, Parham Habibzadeh, Hamid Nemati, Amir Saeed, Mohammad Silawi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi and Seyed Alireza Dastgheib
5. Content Type:Case Report

     |  11 January 2019

   Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBPand EP300 genes: a case report

   Authors:Mohammad M. Al-Qattan, Abdulaziz Jarman, Atif Rafique, Zuhair N. Al-Hassnan and Heba M. Al-Qattan

Most recent articles RSS

View all articles