Showing 1 - 20 results of 20 for search 'Majid Alfadhel', query time: 0.04s
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Variants of uncertain significance is a clinical dilemma by Majid Alfadhel
Published 2021-12-01
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Journal of Biochemical and Clinical Genetics: A Great Step Forward in Genomic Research by Majid Alfadhel
Published 2018-06-01
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Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature by Nourah Alruqaie, Majid Alfadhel
Published 2018-12-01
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First successful outcomes of pegvaliase (PALYNZIQ) in children by Majid Alfadhel, Rayyan Albarakati
Published 2024-03-01
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Genetics of autism spectrum disorders: a long road to pass by Abdul-Mohsen Alhejaily, Majid Alfadhel
Published 2019-12-01
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Epileptic encephalopathy caused by biallelic mutation in PPM1D: a case report by Hind AlMaghthawi, Marwan Nashabat, Majid Alfadhel
Published 2018-06-01
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A novel homozygous splice site variant in the CLCN7 causes osteopetrosis by Zeinab Klaab, Abeer Al Tuwaijri, Muhammad Umair, Badr Aldahmash, Majid Alfadhel
Published 2023-01-01
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Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia by Yusra Alyafee, Qamre Alam, Abeer Al Tuwaijri, Muhammad Umair, Shahad Haddad, Meshael Alharbi, Hayat Alrabiah, Maha Al-Ghuraibi, Sahar Al-Showaier, Majid Alfadhel
Published 2021-03-01
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Supplementary testing after negative or inconclusive exome sequencing results by Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares
Published 2023-06-01
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Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype by Abeer Al Tuwaijri, Yusra Alyafee, Muhammad Umair, Arwa Alsubait, Mashael Alharbi, Hamad AlEidi, Mariam Ballow, Mohammed Aldrees, Qamre Alam, Abdulkareem Al Abdulrahman, Muhammad Talal Alrifai, Majid Alfadhel
Published 2023-04-01
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Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo <i>CDC42</i> Gene Defect: Expanding the Molecular... by Abdulaziz Asiri, Deemah Alwadaani, Muhammad Umair, Kheloud M. Alhamoudi, Mohammed H. Almuhanna, Abdul Nasir, Bahauddeen M. Alrfaei, Abeer Al Tuwaijri, Tlili Barhoumi, Yusra Alyafee, Bader Almuzzaini, Mohammed Aldrees, Mariam Ballow, Latifah Alayyar, Abdulkareem Al Abdulrahman, Yazeid Alhaidan, Nahlah Al Ghasham, Sulaiman Al-Ajaji, Mohammad Alsalamah, Wafa Al Suwairi, Majid Alfadhel
Published 2021-02-01
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Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa by Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M. Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Haya Alkhayyat, Azad Haleem, Mouza Al Yahyaei, Ines Khochtali, Saleha Babli, Ahmed Nugud, Nandu Thalange, Sarah Albalushi, Nadia Hergli, Asma Deeb, Majid Alfadhel
Published 2024-03-01
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KAIMRC’S Second Therapeutics Discovery Conference by Zeyad Alehaideb, Nimer Mehyar, Mai Al Ajaji, Mohammed Alassiri, Manal Alaamery, Bader Al Debasi, Bandar Alghanem, Jahad Alghamdi, Bahauddeen M. Alrfaei, Barrak Al Somaie, Ahmed Bakillah, Tlili Barhoumi, Yosra Boudjelal, Ibrahim Bushnak, Majid Alfadhel, Sheraz Gul, Imadul Islam, Mo Li, Theam Soon Lim, Salam Massadeh, Lamis Mouyes, Adel Nefzi, Atef Nehdi, Wyatt Yue, Ahmed Alaskar, Mohamed Boudjelal
Published 2020-04-01
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