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BMC Medical Genetics

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1. Content type:Case report

   29 October 2019

   Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

   Authors:Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi and Seyed Alireza Dastgheib
2. Content type:Research article

   29 October 2019

   Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

   Authors:Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel and Xue Zhang
3. Content type:Case report

   28 October 2019

   A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report

   Authors:Xia Wu, Wenhong Wang, Yan Liu, Wenyu Chen and Linsheng Zhao
4. Content type:Research article

   26 October 2019

   Decoding of novel missense TSC2 gene variants using in-silico methods

   Authors:Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra and Madhumita Roy Chowdhury
5. Content type:Research article

   23 October 2019

   MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study

   Authors:Feriha Fatima Khidri, Yar Muhammad Waryah, Faiza Kamran Ali, Hina Shaikh, Ikram Din Ujjan and Ali Muhammad Waryah