Search Results - Mohammed Almannai

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  1. 1

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

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  2. 2

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

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  3. 3

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

    Published in Membranes (2022-06-01)
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  4. 4

    Atypical down syndrome features with an atypical chromosomal rearrangement: a case report by Hiba Abu Khalil, Mohammed Almannai, Mohammed Albalwi, Wafaa Eyaid

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  5. 5

    Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience by Mohammed Alzaid, Khalid Al-Mobaireek, Mohammed Almannai, Gawahir Mukhtar, Safa Eltahir, Adnan Zafar, Abdulali P. Zada, Wadha Alotaibi

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  6. 6

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

    Published in Molecular Genetics and Metabolism Reports (2024-03-01)
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  7. 7

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

    Published in Genetics in Medicine Open (2023-01-01)
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  8. 8

    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 in Frontiers in Genetics (2022-05-01)
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  9. 9

    Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia by Abdulrahman Al-Hussaini, Mohammed AlMannai, Muhannad Alruwaithi, Eissa Faqeih, Ali Alasmari, Majid Alfadhel, Fuad Al Mutairi, Mohammed Saleh, Abdullah AlZaben, Yaser Alobailan, Moodhi Alharbi, Manal AlAfqi, Alaa Alayed, Abdul Ali Peer-Zada, Yasir Alrusayni

    Published in PLoS ONE (2025-01-01)
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  10. 10

    Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia. by Abdulrahman Al-Hussaini, Mohammed AlMannai, Muhannad Alruwaithi, Eissa Faqeih, Ali Alasmari, Majid Alfadhel, Fuad Al Mutairi, Mohammed Saleh, Abdullah AlZaben, Yaser Alobailan, Moodhi Alharbi, Manal AlAfqi, Alaa Alayed, Abdul Ali Peer-Zada, Yasir Alrusayni

    Published in PLoS ONE (2025-01-01)
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  11. 11

    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 in Orphanet Journal of Rare Diseases (2021-10-01)
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  12. 12

    Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy by 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

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  13. 13

    Adult genomic medicine: lessons from a multisite study of 2700 patients by Khadijah Bakur, Halima Hamid, Bader Alhaddad, Majid Alfadhel, Amal Alhashem, Wafaa Eyaid, Talal Alanzi, Fuad Al Mutairi, Abdulrahman Alswaid, Farouq Ababneh, Malak Al Ghamdi, Sarar Mohamed, Ahmed Alaskar, Farjah Alqahtani, Hamad Alzaidan, Mohammed Al-Owain, Eissa A. Faqeih, Aziza M. Mushiba, Rola Alanazi, Basamat Almoallem, Norah Saleh Alsaleh, Saeed Al Tala, Muneera Alshammari, Alyazeed Turkistani, Ghadah Gosadi, Fahad Hakami, Fahad Alobaid, Hadeel Al Rukban, Ahmed Alfaidi, Rola Ba-Abbad, Mohammed A. Almuqbil, Ahmad Al-Boukai, Abdulrahman Saad Alamri, Ali Alshehri, Raashda A. Sulaiman, Ali Almontasheri, Enam Danish, Afaf AlSagheir, Deema Aljeaid, Bashayer S. Al-Awam, Aiman Shawli, Maha Al-Otaibi, Wed Sameer Majdali, Zohor Asaad Azher, Mohammed Almannai, Wail Baalawi, Saudi Adult Genomics Group, Lama AlAbdi, Touati Benoukraf, Fowzan S. Alkuraya

    Published in Genome Medicine (2025-09-01)
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