BMC Medical Genetics | Home page

BMC Medical Genetics | Home page

Articles

• Recent
• Most accessed

1. Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families

   Authors:Tawfiq Froukh, Ammar Hawwari and Khalid Al Zubi

   Content type:Research article

    

   4 September 2020

2. A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report

   Authors:Ruimin Cai, Yi Li, Wenyang Wang and Qiang Feng

   Content type:Case report

    

   3 September 2020

3. A very early diagnosis of Alstrӧm syndrome by next generation sequencing

   Authors:Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo and Matteo Bertelli

   Content type:Case report

    

   1 September 2020

4. Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study

   Authors:Ali Amar, Ayesha Afzal, Athar Hameed, Mumtaz Ahmad, Abdul Rafay Khan, Humaira Najma, Aiysha Abid and Shagufta Khaliq

   Content type:Research article

    

   25 August 2020

5. Alpha thalassemia genotypes in Kuwait

   Authors:Adekunle Adekile, Jalaja Sukumaran, Diana Thomas, Thomas D’Souza and Mohammad Haider

   Content type:Research article

    

   24 August 2020