Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

Por Johansen, Anide, Rosti, Rasim O., Musaev, Damir, Sticca, Evan, Harripaul, Ricardo, Zaki, Maha, Çağlayan, Ahmet Okay, Azam, Matloob, Sultan, Tipu, Froukh, Tawfiq, Reis, André, Popp, Bernt, Ahmed, Iltaf, John, Peter, Ayub, Muhammad, Ben-Omran, Tawfeg, Vincent, John B., Gleeson, Joseph G., Abou Jamra, Rami
Publicado no Am J Hum Genet (2016)

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Por Ahmed, Iltaf, Buchert, Rebecca, Zhou, Mi, Jiao, Xinfu, Mittal, Kirti, Sheikh, Taimoor I., Scheller, Ute, Vasli, Nasim, Rafiq, Muhammad Arshad, Brohi, M. Qasim, Mikhailov, Anna, Ayaz, Muhammad, Bhatti, Attya, Sticht, Heinrich, Nasr, Tanveer, Carter, Melissa T., Uebe, Steffen, Reis, André, Ayub, Muhammad, John, Peter, Kiledjian, Megerditch, Vincent, John B., Jamra, Rami Abou
Publicado no Hum Mol Genet (2015)

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

Por Heidari, Abolfazl, Tongsook, Chanakan, Najafipour, Reza, Musante, Luciana, Vasli, Nasim, Garshasbi, Masoud, Hu, Hao, Mittal, Kirti, McNaughton, Amy J. M., Sritharan, Kumudesh, Hudson, Melissa, Stehr, Henning, Talebi, Saeid, Moradi, Mohammad, Darvish, Hossein, Arshad Rafiq, Muhammad, Mozhdehipanah, Hossein, Rashidinejad, Ali, Samiei, Shahram, Ghadami, Mohsen, Windpassinger, Christian, Gillessen-Kaesbach, Gabriele, Tzschach, Andreas, Ahmed, Iltaf, Mikhailov, Anna, Stavropoulos, D. James, Carter, Melissa T., Keshavarz, Soraya, Ayub, Muhammad, Najmabadi, Hossein, Liu, Xudong, Ropers, Hans Hilger, Macheroux, Peter, Vincent, John B.
Publicado no Hum Mol Genet (2015)