Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy

Por Sulaiman, Raashda Ainuddin, Shaheen, Marwan Yassin, Al-Zaidan, Hamad, Al-Hassnan, Zuhair, Al-Sayed, Moeenaldeen, Rahbeeni, Zuhair, Bakshi, Nasir Ahmed, Kaya, Namik, Aldosary, Mazhor, Al-Owain, Mohammed
Publicado no Intractable Rare Dis Res (2016)

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

Por Al-Owain, Mohammed, Kaya, Namik, Al-Zaidan, Hamad, Bin Hussain, Ibrahim, Al-Manea, Hadeel, Al-Hindi, Hindi, Kennedy, Shelley, Iqbal, M. Anwar, Al-Mojalli, Hamad, Al-Bakheet, Albandary, Puel, Anne, Casanova, Jean-Laurent, Al-Muhsen, Saleh
Publicado em 2010

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Por Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad, Al-Amoudi, Mohammad, Qari, Alya, Balobaid, Ameera, Al-Sayed, Moeenaldeen
Publicado no Mol Genet Metab Rep (2017)

Validation of Ion Torrent(TM) Inherited Disease Panel with the PGM(TM) Sequencing Platform for Rapid and Comprehensive Mutation Detection

Por Mustafa, Abeer E., Faquih, Tariq, Baz, Batoul, Kattan, Rana, Al-Issa, Abdulelah, Tahir, Asma I., Imtiaz, Faiqa, Ramzan, Khushnooda, Al-Sayed, Moeenaldeen, Alowain, Mohammed, Al-Hassnan, Zuhair, Al-Zaidan, Hamad, Abouelhoda, Mohamed, Al-Mubarak, Bashayer R., Al Tassan, Nada A.
Publicado no Genes (Basel) (2018)

Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

Por Al-Sayed, Moeenaldeen D., Al-Zaidan, Hamad, Albakheet, AlBandary, Hakami, Hana, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Qari, Alya, Al-Sheddi, Tarfa, Al-Muheiza, Muhammed, Al-Qubbaj, Wafa, Lakmache, Yamina, Al-Hindi, Hindi, Ghaziuddin, Muhammad, Colak, Dilek, Kaya, Namik
Publicado em 2013

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

Por Imtiaz, Faiqa, Al-Mubarak, Bashayer M., Al-Mostafa, Abeer, Al-Hamed, Mohamed, Allam, Rabab, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Faqeih, Eissa Ali, Alasmari, Ali, Al-Mutairi, Fuad, Alfadhel, Majid, Eyaid, Wafaa M., Rashed, Mohamed S., Al-Sayed, Moeenaldeen
Publicado no JIMD Rep (2015)

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Por Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.
Publicado no Ann Neurol (2017)