Hasil Pencarian - Fuad Al Mutairi

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  1. 1
    Hyperhomocysteinemia: Clinical Insights

    Hyperhomocysteinemia: Clinical Insights oleh Fuad Al Mutairi

    Diterbitkan 2020-10-01
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  2. 2
    Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis

    Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis oleh Maha Al Harbi, Fuad Al Mutairi

    Diterbitkan 2019-06-01
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  3. 3
    Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review

    Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review oleh Alshaimaa Alzahrani, Maha Alshalan, Mohammed Alfurayh, Abdulaziz Bin Akrish, Najlaa A. Alsubeeh, Fuad Al Mutairi, Fuad Al Mutairi

    Diterbitkan 2023-04-01
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  4. 4
    Dilated cardiomyopathy in a child with truncating mutation in NRAP gene

    Dilated cardiomyopathy in a child with truncating mutation in NRAP gene oleh Hind Abdelrahman Ahmed, Saleh Al-ghamdi, Fuad Al Mutairi

    Diterbitkan 2018-12-01
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  5. 5
    Continuous supernumerary teeth development in cleidocranial dysplasia post-surgical extraction – A novel case report

    Continuous supernumerary teeth development in cleidocranial dysplasia post-surgical extraction – A novel case report oleh Faisal Joueidi, Ahmad Joueidi, Yanal Nusair, Fuad Al Mutairi, Samar Al Hayek

    Diterbitkan 2023-12-01
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  6. 6
    Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

    Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4 oleh Saud Alsahli, Muhammad Talal Alrifai, Saeed Al Tala, Fuad Al Mutairi, Majid Alfadhel

    Diterbitkan 2018-02-01
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  7. 7
    Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report

    Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report oleh Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla

    Diterbitkan 2023-06-01
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  8. 8
    HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients

    HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients oleh 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

    Diterbitkan 2022-05-01
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  9. 9
    The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia

    The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia oleh Anar Alfarsi, Majid Alfadhel, Seham Alameer, Amal Alhashem, Brahim Tabarki, Faroug Ababneh, Ahmed Al Fares, Fuad Al Mutairi

    Diterbitkan 2021-12-01
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  10. 10
    Genetic carrier screening for disorders included in newborn screening in the Saudi population

    Genetic carrier screening for disorders included in newborn screening in the Saudi population oleh Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares

    Diterbitkan 2021-12-01
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  11. 11
    Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report

    Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report oleh Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi

    Diterbitkan 2020-06-01
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  12. 12
    Genetic impact of non-consanguineous marriages in Saudi Arabia.

    Genetic impact of non-consanguineous marriages in Saudi Arabia. oleh Mohammed Alyahya, Taghrid Aloraini, Youseef Al-Harbi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares

    Diterbitkan 2022-12-01
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  13. 13
    Supplementary testing after negative or inconclusive exome sequencing results

    Supplementary testing after negative or inconclusive exome sequencing results oleh Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares

    Diterbitkan 2023-06-01
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  14. 14
    Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features

    Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features oleh Fuad Al Mutairi, Faisal Joueidi, Maha Alshalan, Essra Aloyouni, Mariam Ballow, Mohammed Aldrees, Abdulkareem Al Abdulrahman, Abeer Al Tuwaijri, Safdar Abbas, Muhammad Umair, Majid Alfadhel

    Diterbitkan 2024-08-01
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  15. 15
    Common disease-associated gene variants in a Saudi Arabian population

    Common disease-associated gene variants in a Saudi Arabian population oleh 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

    Diterbitkan 2022-01-01
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  16. 16
    Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

    Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report oleh Fuad Al Mutairi, Randa Alkhalaf, Abdullah Alkhorayyef, Fayhan Alroqi, Alyafee Yusra, Muhammad Umair, Fetaini Nouf, Amjad Khan, Alharbi Meshael, Aleidi Hamad, Alaujan Monira, Abdulaziz Asiri, Kheloud M. Alhamoudi, Majid Alfadhel

    Diterbitkan 2020-05-01
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  17. 17
    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

    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... oleh 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

    Diterbitkan 2019-06-01
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  18. 18
    Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

    Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial oleh 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

    Diterbitkan 2021-10-01
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  19. 19
    The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

    The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data oleh 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

    Diterbitkan 2021-05-01
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  20. 20
    What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

    What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations oleh 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

    Diterbitkan 2020-07-01
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