Hasil Pencarian - Mohammed Almannai

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  1. 1
    Opsismodysplasia and Dilated Cardiomyopathy: a case report

    Opsismodysplasia and Dilated Cardiomyopathy: a case report oleh Muneer Almutairi, Mohammed Almannai

    Diterbitkan 2020-12-01
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  2. 2
    Nitric Oxide Deficiency in Mitochondrial Disorders: The Utility of Arginine and Citrulline

    Nitric Oxide Deficiency in Mitochondrial Disorders: The Utility of Arginine and Citrulline oleh Mohammed Almannai, Mohammed Almannai, Ayman W. El-Hattab, Ayman W. El-Hattab

    Diterbitkan 2021-08-01
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  3. 3
    Tyrosinemia type I: an unusual case presentation

    Tyrosinemia type I: an unusual case presentation oleh Marwa ALMahroos, Mohammed AlMannai

    Diterbitkan 2022-06-01
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  4. 4
    Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes

    Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes oleh Mohammed Almannai, Azza Salah, Ayman W. El-Hattab

    Diterbitkan 2022-06-01
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  5. 5
    Carnitine Inborn Errors of Metabolism

    Carnitine Inborn Errors of Metabolism oleh Mohammed Almannai, Majid Alfadhel, Ayman W. El-Hattab

    Diterbitkan 2019-09-01
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  6. 6
    A case report of de novo 11q triplication, duplication, and segmental area of absence of heterozygosity in an infant with dysmorphic features, failure to thrive, and developmental delay.

    A case report of de novo 11q triplication, duplication, and segmental area of absence of heterozygosity in an infant with dysmorphic features, failure to thrive, and developmental... oleh Mohammed Almannai, Walaa Althunayyan, Mohammed Alamin, Paula Rendeiro, Suha Tashkandi

    Diterbitkan 2019-06-01
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  7. 7
    Harel-Yoon syndrome: the first case report from Saudi Arabia

    Harel-Yoon syndrome: the first case report from Saudi Arabia oleh Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai

    Diterbitkan 2020-06-01
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  8. 8
    Arginine and Citrulline for the Treatment of MELAS Syndrome

    Arginine and Citrulline for the Treatment of MELAS Syndrome oleh Ayman W. El-Hattab MD, FACMG, Mohammed Almannai MD, Fernando Scaglia MD, FACMG

    Diterbitkan 2017-03-01
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  9. 9
    WIPI proteins: Biological functions and related syndromes

    WIPI proteins: Biological functions and related syndromes oleh Mohammed Almannai, Dana Marafi, Ayman W. El-Hattab, Ayman W. El-Hattab, Ayman W. El-Hattab

    Diterbitkan 2022-09-01
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  10. 10
    Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature

    Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature oleh Ali Al-Otaibi, Alaa AlAyed, Asma Al Madhi, Leena Saeed, Bobby G. Ng, Hudson H. Freeze, Mohammed Almannai

    Diterbitkan 2022-03-01
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  11. 11
    A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene

    A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene oleh Afaf Alsubhi, Manar Aldarwish, Pankaj B. Agrawal, Saeed M. Al Tala, Osama Eldadah, Abdulla A. Alghamdi, Amal Silmi, Mohammed Almannai

    Diterbitkan 2024-03-01
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  12. 12
    P102: KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon

    P102: KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon oleh Mohammed Almannai, Lama AlAbdi, Sateesh Maddirevula, Maha Alotaibi, Bader AlSaleem, Yaser Aljadhai, Hessa Alsaif, Mussad Abu Khalid, Fowzan Alkuraya

    Diterbitkan 2023-01-01
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  13. 13
    Metabolic Seizures

    Metabolic Seizures oleh Mohammed Almannai, Rabah A. Al Mahmoud, Rabah A. Al Mahmoud, Mohammed Mekki, Mohammed Mekki, Ayman W. El-Hattab, Ayman W. El-Hattab

    Diterbitkan 2021-07-01
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  14. 14
    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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  15. 15
    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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  16. 16
    Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

    Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy oleh Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep C. Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, James R. Lupski

    Diterbitkan 2020-05-01
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  17. 17
    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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