Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral n... by Chedrawi, Aziza K, Al-Hassnan, Zuhair N, Al-Muhaizea, Muhammad, Colak, Dilek, Al-Younes, Banan, Albakheet, AlBandary, Tulba, Sahar, Kaya, Namik

Get full text

Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease by Chedrawi, Aziza K., Ali, Ayman, Al Hassnan, Zuhair N., Faiyaz-Ul-Haque, Muhammad, Wolf, Barry

Get full text

Cephalosporin-induced nonconvulsive status epilepticus in a uremic child by Chedrawi, Aziza K, Gharaybeh, Salam I, Al-Ghwery, Saed A, Al-Mohaimeed, Sulaiman A, Alshahwan, Saad A

Get full text

Neck-tongue syndrome by Chedrawi, Aziza K, Fishman, Marvin A, Miller, Geoffrey

Get full text

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3 by Iruzubieta, Pablo, Alves, César Augusto Pinheiro Ferreira, Al Shamsi, Aisha M., ElGhazali, Gehad, Zaki, Maha S., Pinelli, Lorenzo, Lopergolo, Diego, Cho, Bernard P.H., Jolly, Amy A., Al Futaisi, Amna, Al-Amrani, Fatema, Galli, Jessica, Fazzi, Elisa, Vulin, Katarina, Barajas-Olmos, Francisco, Hengel, Holger, Aljamal, Bayan Mohammed, Nasr, Vahideh, Assarzadegan, Farhad, Ragno, Michele, Trojano, Luigi, Ojeda, Naomi Meave, Çakar, Arman, Bianchi, Silvia, Pescini, Francesca, Poggesi, Anna, Al Tenalji, Amal, Aziz, Majid, Mohammad, Rahema, Chedrawi, Aziza, De Stefano, Nicola, Zifarelli, Giovanni, Schöls, Ludger, Haack, Tobias B., Rebelo, Adriana, Zuchner, Stephan, Koc, Filiz, Griffiths, Lyn R., Orozco, Lorena, Helmes, Karla García, Babaei, Meisam, Bauer, Peter, Chan Jeong, Won, Karimiani, Ehsan Ghayoor, Schmidts, Miriam, Gleeson, Joseph G., Chung, Wendy K., Alkuraya, Fowzan Sami, Shalbafan, Bita, Markus, Hugh S., Houlden, Henry, Maroofian, Reza

Get full text

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3Research in context by Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli, Diego Lopergolo, Bernard P.H. Cho, Amy A. Jolly, Amna Al Futaisi, Fatema Al-Amrani, Jessica Galli, Elisa Fazzi, Katarina Vulin, Francisco Barajas-Olmos, Holger Hengel, Bayan Mohammed Aljamal, Vahideh Nasr, Farhad Assarzadegan, Michele Ragno, Luigi Trojano, Naomi Meave Ojeda, Arman Çakar, Silvia Bianchi, Francesca Pescini, Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad, Aziza Chedrawi, Nicola De Stefano, Giovanni Zifarelli, Ludger Schöls, Tobias B. Haack, Adriana Rebelo, Stephan Zuchner, Filiz Koc, Lyn R. Griffiths, Lorena Orozco, Karla García Helmes, Meisam Babaei, Peter Bauer, Won Chan Jeong, Ehsan Ghayoor Karimiani, Miriam Schmidts, Joseph G. Gleeson, Wendy K. Chung, Fowzan Sami Alkuraya, Bita Shalbafan, Hugh S. Markus, Henry Houlden, Reza Maroofian

Get full text

Loss of the Potassium Channel β‐Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome by Heilstedt, Heidi A., Burgess, Daniel L., Anderson, Anne E., Chedrawi, Aziza, Tharp, Barry, Lee, Olivia, Kashork, Catherine D., Starkey, David E., Wu, Yuan‐Qing, Noebels, Jeffrey L., Shaffer, Lisa G., Shapira, Stuart K.

Get full text