A new case of Bainbridge-Ropers syndrome (BRPS): delineating the phenotype and review of literature by Faroug Ababneh, Marwan Nashabat, Majid Alfadhel

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Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report by Hind AlMaghthawi, Marwan Nashabat, Majid Alfadhel

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The association between IVF and chromosomal abnormalities compared to spontaneous conception by Sawsan Alharthi, Lama Alrasheed, Ghada Alrashed, Ghaida Almutairi, Marwan Nashabat, Majid Alfadhel

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

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

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

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

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

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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... by Marwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, Mohammed Saleh, Mohammed Elamin, Hind Ahmed, Faroug Ababneh, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Majed Aljeraisy, Mohamed A. Hussein, Ali Alasmari, Majid Alfadhel

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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... by Mohammad Bosaeed, Ebrahim Mahmoud, Mohammad Hussein, Ahmad Alharbi, Abdulrahman Alsaedy, Adel Alothman, Majed Aljeraisy, Hajar Alqahtani, Marwan Nashabat, Badriah Almutairi, Manar Almaghaslah, Omar Aldibasi, Sameera AlJohani, Abderrezak Bouchama, Yaseen Arabi, Ahmad Alaskar

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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 by Muhammad Umair, Muhammad Farooq Khan, Mohammed Aldrees, Marwan Nashabat, Kheloud M. Alhamoudi, Kheloud M. Alhamoudi, Muhammad Bilal, Yusra Alyafee, Abeer Al Tuwaijri, Manar Aldarwish, Ahmed Al-Rumayyan, Hamad Alkhalaf, Mohammad A. M. Wadaan, Majid Alfadhel, Majid Alfadhel

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

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

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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation by Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard

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