Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

by Nesreen K. Al-Jezawi, Aisha M. Al-Shamsi, Jehan Suleiman, Salma Ben-Salem, Anne John, Ranjit Vijayan, Bassam R. Ali, Lihadh Al-Gazali
Published 2018-03-01

Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes

by Muhammad M. Rahman, KM Furkan Uddin, Nesreen K. Al Jezawi, Noushad Karuvantevida, Hosneara Akter, Nushrat J. Dity, Md. Ashiquir Rahaman, Maksuda Begum, Md. Atikur Rahaman, Md. Abdul Baqui, Zeena Salwa, Serajul Islam, Marc Woodbury‐Smith, Mohammed Basiruzzaman, Mohammed Uddin
Published 2019-10-01