Hasil Pencarian - Moeenaldeen AlSayed

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  1. 1
    Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants

    Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants oleh Zainab Al Masseri, Moeenaldeen AlSayed

    Diterbitkan 2022-06-01
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  2. 2
    A case report of a first pregnant woman with late-onset multiple acyl-CoA dehydrogenase deficiency in Saudi Arabia

    A case report of a first pregnant woman with late-onset multiple acyl-CoA dehydrogenase deficiency in Saudi Arabia oleh Shirin Al Sharfa, Rawda Sunbul, Zainab Al Masseri, Moeenaldeen AlSayed, Zuhair N. Al-Hassnan

    Diterbitkan 2022-06-01
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  3. 3
    Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia

    Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia oleh Moeenaldeen AlSayed, Dia Arafa, Huda Al-Khawajha, Manal Afqi, Nouriya Al-Sanna’a, Rawda Sunbul, Maha Faden

    Diterbitkan 2024-07-01
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  4. 4
    The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

    The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region oleh Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi

    Diterbitkan 2023-06-01
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  5. 5
    P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database

    P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database oleh Vanessa Rangel Miller, Heather Richbourg, Jerry Vockley, Omid Japalaghi, Moeenaldeen AlSayed, Mark Kiel, Stephanie Monteleone, Peter Baker, II, Sean Daugherty, Aneal Khan, Lawrence Korngut, Deborah Marsden, Ana Morales, Nicole Miller

    Diterbitkan 2024-01-01
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  6. 6
    The first European consensus on principles of management for achondroplasia

    The first European consensus on principles of management for achondroplasia oleh Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike

    Diterbitkan 2021-07-01
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  7. 7
    Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

    Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia oleh Mohamed H. Al-Hamed, Faiqa Imtiaz, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Mohamed S. Alamoudi, Eissa Faqeih, Majid Alfadhel, Ali Al-Asmari, M.M. Saleh, Fuad Almutairi, Nabil Moghrabi, Moeenaldeen AlSayed

    Diterbitkan 2019-03-01
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  8. 8
    Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

    Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations oleh Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike

    Diterbitkan 2022-07-01
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  9. 9
    Optimising care and follow-up of adults with achondroplasia

    Optimising care and follow-up of adults with achondroplasia oleh Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa, Michael Wright

    Diterbitkan 2022-08-01
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  10. 10
    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis oleh Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Heike Hoyer-Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa

    Diterbitkan 2023-07-01
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  11. 11
    Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

    Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease oleh Faiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, Khushnooda Ramzan, Nada Al-Tassan, Asma I. Tahir, Nouf S. Al-Numair, Mohamed H. Al-Hamed, Zuhair Al-Hassnan, Mohammad Al-Owain, Hamad Al-Zaidan, Mohammad Al-Amoudi, Alya Qari, Ameera Balobaid, Moeenaldeen Al-Sayed

    Diterbitkan 2017-06-01
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  12. 12
    Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

    Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis oleh Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi

    Diterbitkan 2023-12-01
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  13. 13
    A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi Families

    A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi Families oleh Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C. González-Álvarez, Stefan T. Arold, Mohammad Anas Dababo, Omar A. Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M. Al-Ansari, Monika Oláhová, Saif A. Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W. Taylor, Mohammed AlOwain, Namik Kaya

    Diterbitkan 2022-10-01
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  14. 14
    Real-world evidence in achondroplasia: considerations for a standardized data set

    Real-world evidence in achondroplasia: considerations for a standardized data set oleh Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving

    Diterbitkan 2023-06-01
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