Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients

Por Mohamed, Sarar, Hamad, Muddathir H., Abu-Amero, Khaled K.
Publicado no Saudi Med J (2015)

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy

Por Mohamed, Sarar, Hamad, Muddathir H., Hassan, Hamdy H., Salih, Mustafa A.
Publicado no Saudi Med J (2015)

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia

Por Mohamed, Sarar, Hamad, Muddathir H., Kondkar, Altaf A., Abu-Amero, Khaled K.
Publicado no Saudi Med J (2015)

The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature

Por Kentab, Amal Y, Hassan, Hamdy H, Hamad, Muddathir H A, Alhumidi, Ahmed
Publicado no Sudan J Paediatr (2014)

Acute poisoning in a child following topical treatment of head lice (pediculosis capitis) with an organophosphate pesticide

Por Hamad, Muddathir H, Adeel, Ahmed Awad, Alhaboob, Ali Abdu N, Ashri, Ahmed M, Salih, Mustafa A
Publicado no Sudan J Paediatr (2016)

Idiopathic intracranial hypertension in children: Diagnostic and management approach

Por Albakr, Abdulrahman, Hamad, Muddathir H, Alwadei, Ali H, Bashiri, Fahad A, Hassan, Hamdy H, Idris, Hiyam, Hassan, Saeed, Muayqil, Taim, Altweijri, Ikhlass, Salih, Mustafa A
Publicado no Sudan J Paediatr (2016)

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

Por Salih, Mustafa A., Seidahmed, Mohammed Z., El Khashab, Heba Y., Hamad, Muddathir H. A., Bosley, Thomas M., Burn, Sabrina, Myers, Angela, Landsverk, Megan L., Crotwell, Patricia L., Bilguvar, Kaya, Mane, Shrikant, Kruer, Michael C.
Publicado no Tremor Other Hyperkinet Mov (N Y) (2015)

Management of convulsive status epilepticus in children: an adapted clinical practice guideline for pediatricians in Saudi Arabia

Por Bashiri, Fahad A., Hamad, Muddathir H., Amer, Yasser S., Abouelkheir, Manal M., Mohamed, Sarar, Kentab, Amal Y., Salih, Mustafa A., Nasser, Mohammad N. Al, Al-Eyadhy, Ayman A., Othman, Mohammed A. Al, Al-Ahmadi, Tahani, Iqbal, Shaikh M., Somily, Ali M., Wahabi, Hayfaa A., Hundallah, Khalid J., Alwadei, Ali H., Albaradie, Raidah S., Al-Twaijri, Waleed A., Jan, Mohammed M., Al-Otaibi, Faisal, Alnemri, Abdulrahman M., Al-Ansary, Lubna A.
Publicado no Neurosciences (Riyadh) (2017)

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Por Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.
Publicado no Am J Hum Genet (2016)

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Por Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hamad I., Cupler, Edward, Bohlega, Saeed, Faqeih, Eissa, Faden, Maha, Alyounes, Banan, Jaroudi, Dyala, Goljan, Ewa, Elbardisy, Hadeel, Akilan, Asma, Albar, Renad, Aldhalaan, Hesham, Gulab, Shamshad, Chedrawi, Aziza, Al Saud, Bandar K, Kurdi, Wesam, Makhseed, Nawal, Alqasim, Tahani, El Khashab, Heba Y., Al-Mousa, Hamoud, Alhashem, Amal, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Khan, Sameena, Al-Kindy, Adila, Alnemer, Maha, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Tulbah, Maha, Alqassmi, Amal, Almugbel, Maisoon, AlQuaiz, Mohammed, Alsaman, Abdulaziz, Al-Thihli, Khalid, Sulaiman, Raashda A., Al-Dekhail, Wajeeh, Alsaegh, Abeer, Bashiri, Fahad A., Qari, Alya, Alhomadi, Suzan, Alkuraya, Hisham, Alsebayel, Mohammed, Hamad, Muddathir H, Szonyi, Laszlo, Abaalkhail, Faisal, Al-Mayouf, Sulaiman M., Almojalli, Hamad, Alqadi, Khalid S., Elsiesy, Hussien, Shuaib, Taghreed M., Seidahmed, Mohammed Zain, Abosoudah, Ibraheem, Akleh, Hana, AlGhonaium, Abdulaziz, Alkharfy, Turki M., Al Mutairi, Fuad, Eyaid, Wafa, Alshanbary, Abdullah, Sheikh, Farrukh R., Alsohaibani, Fahad I., Alsonbul, Abdullah, Al Tala, Saeed, Balkhy, Soher, Bassiouni, Randa, Alenizi, Ahmed S., Hussein, Maged H., Hassan, Saeed, Khalil, Mohamed, Tabarki, Brahim, Alshahwan, Saad, Oshi, Amira, Sabr, Yasser, Alsaadoun, Saad, Salih, Mustafa A., Mohamed, Sarar, Sultana, Habiba, Tamim, Abdullah, El-Haj, Moayad, Alshahrani, Saif, Bubshait, Dalal K., Alfadhel, Majid, Faquih, Tariq, El-Kalioby, Mohamed, Subhani, Shazia, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.
Publicado no Hum Genet (2017)