Showing 1 - 17 results of 17 for search 'Ahmed Alfares', query time: 0.06s
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Genomics in Saudi Arabia Call for Data-Sharing Policy by Ahmed Alfares
Published 2018-12-01
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Clinical reassessment of post-laboratory variant call format (VCF) files by Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
Published 2018-06-01
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The diagnostic yield of CGH and WES in neurodevelopmental disorders by Raniah S. Alotibi, Raniah S. Alotibi, Naif S. Sannan, Naif S. Sannan, Mariam AlEissa, Mariam AlEissa, Marwh G. Aldriwesh, Marwh G. Aldriwesh, Abeer Al Tuwaijri, Abeer Al Tuwaijri, Maaged A. Akiel, Maaged A. Akiel, Mashael Almutairi, Alhanouf Alsamer, Nouf Altharawi, Ghadah Aljawfan, Badi Alotiabi, Badi Alotiabi, Mohammed A. AlBlawi, Mohammed A. AlBlawi, Mohammed A. AlBlawi, Ahmed Alfares, Ahmed Alfares, Ahmed Alfares, Ahmed Alfares
Published 2023-03-01
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HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients by Majid Alfadhel, Majid Alfadhel, Basma Abadel, Hind Almaghthawi, Muhammad Umair, Zuhair Rahbeeni, Eissa Faqeih, Mohammed Almannai, Ali Alasmari, Mohammed Saleh, Wafaa Eyaid, Wafaa Eyaid, Ahmed Alfares, Ahmed Alfares, Fuad Al Mutairi, Fuad Al Mutairi
Published 2022-05-01
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Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report by Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi
Published 2020-06-01
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Common disease-associated gene variants in a Saudi Arabian population by Mariam Aleissa, Taghrid Aloraini, Lamia Fahad Alsubaie, Madawi Hassoun, Ghada Abdulrahman, Abdulrahman Swaid, Wafa Al Eyaid, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
Published 2022-01-01
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Two Novel Homozygous <i>HPS6</i> Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism by Sajjad Karim, Samah Saharti, Nofe Alganmi, Zeenat Mirza, Ahmed Alfares, Shereen Turkistany, Manal Al-Attas, Hend Noureldin, Khadega Al Sakkaf, Heba Abusamra, Mohammed Al-Qahtani, Adel Abuzenadah
Published 2021-12-01
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Prospect of genetic disorders in Saudi Arabia by Amerh S. Alqahtani, Raniah S. Alotibi, Raniah S. Alotibi, Taghrid Aloraini, Taghrid Aloraini, Fahad Almsned, Fahad Almsned, Fahad Almsned, Yara Alassali, Ahmed Alfares, Bader Alhaddad, Bader Alhaddad, Mariam M. Al Eissa, Mariam M. Al Eissa
Published 2023-09-01
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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
Published 2019-06-01
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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly by William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle
Published 2021-02-01
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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
Published 2021-10-01
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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
Published 2019-10-01
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The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data by Majid Alfadhel, Majid Alfadhel, Majid Alfadhel, Mohammed Almuqbil, Mohammed Almuqbil, Fuad Al Mutairi, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Waleed Altuwaijri, Ahmed Al-Rumayyan, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Naif A. M. Almontashiri, Amal Alhashem, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Muhammad Talal Alrifai, Ahmed Alfares, Ahmed Alfares, Brahim Tabarki
Published 2021-05-01
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What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations by Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer, Marwa Abdelhakim, Senay Kafkas, Katsuhiko Mineta, Nicole Cheung, Abdallah Abdallah, Stine Büchmann-Møller, Yoshinori Fukasawa, Xiang Zhao, Issaac Rajan, Robert Hoehndorf, Fuad Al Mutairi, Takashi Gojobori, Majid Alfadhel
Published 2020-07-01
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