תוצאות חיפוש - Nashabat, Marwan

Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations מאת Nashabat, Marwan, Al-Khenaizan, Sultan, Alfadhel, Majid

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Report of a Case that Expands the Phenotype of Infantile Krabbe Disease מאת Nashabat, Marwan, Al-Khenaizan, Sultan, Alfadhel, Majid

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Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency מאת Aljassim, Nada, Alfadhel, Majid, Nashabat, Marwan, Eyaid, Wafa

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Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease מאת Alfadhel, Majid, Nashabat, Marwan, Ali, Qais Abu, Hundallah, Khalid

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Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report מאת Alshenqiti, Abduljabbar, Nashabat, Marwan, AlGhoraibi, Hissah, Tamimi, Omar, Alfadhel, Majid

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Delineation of cystinuria in Saudi Arabia: A case series מאת Obaid, Abdulrahman, Nashabat, Marwan, Al Fakeeh, Khalid, Al Qahtani, Abdullah T., Alfadhel, Majid

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PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review מאת Alfadhel, Majid, Nashabat, Marwan, Hundallah, Khalid, Al Hashem, Amal, Alrumayyan, Ahmed, Tabarki, Brahim

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Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management מאת Tabarki, Brahim, Hakami, Wejdan, Alkhuraish, Nader, Graies-Tlili, Kalthoum, Nashabat, Marwan, Alfadhel, Majid

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A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia מאת Alhamoudi, Kheloud M., Bhat, Javaid, Nashabat, Marwan, Alharbi, Masheal, Alyafee, Yusra, Asiri, Abdulaziz, Umair, Muhammad, Alfadhel, Majid

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Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study מאת Alghamdi, Malak, Alhasan, Khalid A., Taha Elawad, Areej, Salim, Suha, Abdelhakim, Marwa, Nashabat, Marwan, Raina, Rupesh, Kari, Jameela, Alfadhel, Majid

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Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation מאת Barhoumi, Tlili, Nashabat, Marwan, Alghanem, Bandar, Alhallaj, AlShaimaa, Boudjelal, Mohamed, Umair, Muhammad, Alarifi, Saud, Alfares, Ahmed, Mohrij, Saad A. Al, Alfadhel, Majid

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A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy מאת Alhamoudi, Kheloud M., Barhoumi, Tlili, Al-Eidi, Hamad, Asiri, Abdulaziz, Nashabat, Marwan, Alaamery, Manal, Alharbi, Masheal, Alhaidan, Yazeid, Tabarki, Brahim, Umair, Muhammad, Alfadhel, Majid

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Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency מאת Obaid, Abdulrahman, Nashabat, Marwan, Alfadhel, Majid, Alasmari, Ali, Al Mutairi, Fuad, Alswaid, Abdulrahman, Faqeih, Eissa, Mushiba, Aziza, Albanyan, Marwah, Alalwan, Maryam, Marsden, Deborah, Eyaid, Wafaa

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Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay מאת Asiri, Abdulaziz, Aloyouni, Essra, Umair, Muhammad, Alyafee, Yusra, Al Tuwaijri, Abeer, Alhamoudi, Kheloud M., Almuzzaini, Bader, Al Baz, Abeer, Alwadaani, Deemah, Nashabat, Marwan, Alfadhel, Majid

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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans מאת Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu

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Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized control... מאת Nashabat, Marwan, Obaid, Abdulrahman, Al Mutairi, Fuad, Saleh, Mohammed, Elamin, Mohammed, Ahmed, Hind, Ababneh, Faroug, Eyaid, Wafaa, Alswaid, Abdulrahman, Alohali, Lina, Faqeih, Eissa, Aljeraisy, Majed, Hussein, Mohamed A., Alasmari, Ali, Alfadhel, Majid

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Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish מאת Umair, Muhammad, Farooq Khan, Muhammad, Aldrees, Mohammed, Nashabat, Marwan, Alhamoudi, Kheloud M., Bilal, Muhammad, Alyafee, Yusra, Al Tuwaijri, Abeer, Aldarwish, Manar, Al-Rumayyan, Ahmed, Alkhalaf, Hamad, Wadaan, Mohammad A. M., Alfadhel, Majid

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A Trial of Favipiravir and Hydroxychloroquine combination in Adults Hospitalized with moderate and severe Covid-19: A structured summary of a study protocol for a randomised contro... מאת Bosaeed, Mohammad, Mahmoud, Ebrahim, Hussein, Mohammad, Alharbi, Ahmad, Alsaedy, Abdulrahman, Alothman, Adel, Aljeraisy, Majed, Alqahtani, Hajar, Nashabat, Marwan, Almutairi, Badriah, Almaghaslah, Manar, Aldibasi, Omar, AlJohani, Sameera, Bouchama, Abderrezak, Arabi, Yaseen, Alaskar, Ahmad

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Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial מאת Alfadhel, Majid, Nashabat, Marwan, Saleh, Mohammed, Elamin, Mohammed, Alfares, Ahmed, Al Othaim, Ali, Umair, Muhammad, Ahmed, Hind, Ababneh, Faroug, Al Mutairi, Fuad, Eyaid, Wafaa, Alswaid, Abdulrahman, Alohali, Lina, Faqeih, Eissa, Almannai, Mohammed, Aljeraisy, Majed, Albdah, Bayan, Hussein, Mohamed A., Rahbeeni, Zuhair, Alasmari, Ali

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Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening מאת Alfadhel, Majid, Umair, Muhammad, Almuzzaini, Bader, Alsaif, Saif, AlMohaimeed, Sulaiman A., Almashary, Maher A., Alharbi, Wardah, Alayyar, Latifah, Alasiri, Abdulrahman, Ballow, Mariam, AlAbdulrahman, Abdulkareem, Alaujan, Monira, Nashabat, Marwan, Al‐Odaib, Ali, Altwaijri, Waleed, Al‐Rumayyan, Ahmed, Alrifai, Muhammad T., Alfares, Ahmed, AlBalwi, Mohammed, Tabarki, Brahim

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