A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy
Alhamoudi, Kheloud M., Barhoumi, Tlili, Al-Eidi, Hamad, Asiri, Abdulaziz, Nashabat, Marwan, Alaamery, Manal, Alharbi, Masheal, Alhaidan, Yazeid, Tabarki, Brahim, Umair, Muhammad, Alfadhel, Majid
Published in Scientific reports (18.06.2021)
Published in Scientific reports (18.06.2021)
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Journal Article
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
Ahmed, Ashfaque, Wang, Meng, Bergant, Gaber, Maroofian, Reza, Zhao, Rongjuan, Alfadhel, Majid, Nashabat, Marwan, AlRifai, Muhammad Talal, Eyaid, Wafaa, Alswaid, Abdulrahman, Beetz, Christian, Qin, Yan, Zhu, Tengfei, Tian, Qi, Xia, Lu, Wu, Huidan, Shen, Lu, Dong, Shanshan, Yang, Xinyi, Liu, Cenying, Ma, Linya, Zhang, Qiumeng, Khan, Rizwan, Shah, Abid Ali, Guo, Jifeng, Tang, Beisha, Leonardis, Lea, Writzl, Karin, Peterlin, Borut, Guo, Hui, Malik, Sajid, Xia, Kun, Hu, Zhengmao
Published in Human genetics (01.04.2021)
Published in Human genetics (01.04.2021)
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Journal Article
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
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
Published in Orphanet journal of rare diseases (11.10.2021)
Published in Orphanet journal of rare diseases (11.10.2021)
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Journal Article
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients
Al Mutairi, Fuad, Alfadhel, Majid, Nashabat, Marwan, El-Hattab, Ayman W., Ben-Omran, Tawfeg, Hertecant, Jozef, Eyaid, Wafaa, Ali, Rehab, Alasmari, Ali, Kara, Majdi, Al-Twaijri, Waleed, Filimban, Rana, Alshenqiti, Abduljabbar, Al-Owain, Mohammed, Faqeih, Eissa, Alkuraya, Fowzan S.
Published in Pediatric neurology (01.01.2018)
Published in Pediatric neurology (01.01.2018)
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Journal Article
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 controlled trial
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
Published in Current controlled trials in cardiovascular medicine (31.10.2020)
Published in Current controlled trials in cardiovascular medicine (31.10.2020)
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Journal Article
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
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
Published in Human genetics (01.11.2016)
Published in Human genetics (01.11.2016)
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Journal Article
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 controlled trial
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
Published in BMC pediatrics (13.06.2019)
Published in BMC pediatrics (13.06.2019)
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Journal Article
A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
Alhamoudi, Kheloud M, Bhat, Javaid, Nashabat, Marwan, Alharbi, Masheal, Alyafee, Yusra, Asiri, Abdulaziz, Umair, Muhammad, Alfadhel, Majid
Published in Frontiers in pediatrics (27.02.2020)
Published in Frontiers in pediatrics (27.02.2020)
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Journal Article
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening
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
Published in Annals of clinical and translational neurology (01.10.2019)
Published in Annals of clinical and translational neurology (01.10.2019)
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Journal Article
Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish
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
Published in Frontiers in cell and developmental biology (01.10.2021)
Published in Frontiers in cell and developmental biology (01.10.2021)
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Journal Article
Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay
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
Published in Annals of clinical and translational neurology (01.06.2020)
Published in Annals of clinical and translational neurology (01.06.2020)
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Journal Article
Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report
AlMaghthawi, Hind, Nashabat, Marwan, Alfadhel, Majid
Published in Journal of Biochemical and Clinical Genetics (01.06.2018)
Published in Journal of Biochemical and Clinical Genetics (01.06.2018)
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Journal Article
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study
Alghamdi, Malak, Alhasan, Khalid A., Taha Elawad, Areej, Salim, Suha, Abdelhakim, Marwa, Nashabat, Marwan, Raina, Rupesh, Kari, Jameela, Alfadhel, Majid
Published in Frontiers in pediatrics (11.11.2020)
Published in Frontiers in pediatrics (11.11.2020)
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Journal Article
PRUNE Syndrome Is a New Neurodevelopmental Disorder
Alfadhel Majid, Nashabat Marwan, Hundallah Khalid, Al Hashem Amal, Alrumayyan Ahmed, Tabarki Brahim
Published in Child neurology open (01.01.2018)
Published in Child neurology open (01.01.2018)
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Journal Article
Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation
Barhoumi, Tlili, Nashabat, Marwan, Alghanem, Bandar, Alhallaj, AlShaimaa, Boudjelal, Mohamed, Umair, Muhammad, Alarifi, Saud, Alfares, Ahmed, Mohrij, Saad A Al, Alfadhel, Majid
Published in Frontiers in genetics (05.06.2019)
Published in Frontiers in genetics (05.06.2019)
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Journal Article
Report of a Case that Expands the Phenotype of Infantile Krabbe Disease
Nashabat, Marwan, Al-Khenaizan, Sultan, Alfadhel, Majid
Published in The American journal of case reports (04.05.2019)
Published in The American journal of case reports (04.05.2019)
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Journal Article