Výsledky vyhledávání - Tawfeg Ben‐Omran

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  1. 1
    Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance

    Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance Autor Johannes Häberle, Noora Shahbeck, Khalid Ibrahim, Bernhard Schmitt, Ianina Scheer, Ruth Tuura, Farrukh A. Chaudhry, Tawfeg Ben‐Omran

    Vydáno 2012
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  2. 2
    Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar

    Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar Autor Tawfeg Ben‐Omran, Kaltham Al-Ghanim, Tarunashree Yavarna, Maha El Akoum, Muthanna Samara, Prem Chandra, Nader Al‐Dewik

    Vydáno 2019
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  3. 3
    Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations

    Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations Autor Ritika R. Kapoor, Sarah E. Flanagan, Piers Fulton, Anupam Chakrapani, B. Chadefaux, Tawfeg Ben‐Omran, Indraneel Banerjee, Julian Hamilton‐Shield, Sian Ellard, Khalid Hussain

    Vydáno 2009
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  4. 4
    The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group

    The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group Autor Sandra Sirrs, Carla E. M. Hollak, Martin Merkel, Annalisa Sechi, Emma Glamuzina, Marijn Janssen, Robin Lachmann, Janneke G. Langendonk, Mauro Scarpelli, Tawfeg Ben Omran, Fanny Mochel, Michel Tchan

    Vydáno 2015
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  5. 5
    Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

    Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome Autor Natascia Anastasio, Tawfeg Ben‐Omran, Ahmad S. Teebi, Kevin Ha, Emilie Lalonde, Rehab Ali, Mariam Almureikhi, Vazken M. Der Kaloustian, Junhui Liu, David S. Rosenblatt, Jacek Majewski, Loydie A. Jerome‐Majewska

    Vydáno 2010
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  6. 6
    SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

    SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors Autor G. Herma Renkema, Saskia B. Wortmann, Roel Smeets, Hanka Venselaar, Marion Antoine, Gepke Visser, Tawfeg Ben‐Omran, Lambert P. van den Heuvel, Henri Timmers, Jan Smeitink, Richard J. Rodenburg

    Vydáno 2014
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  7. 7
    Guidelines for acute management of hyperammonemia in the Middle East region

    Guidelines for acute management of hyperammonemia in the Middle East region Autor Majid Alfadhel, Fuad Al Mutairi, Nawal Makhseed, Fatma Al Jasmi, Khalid Al‐Thihli, Emtithal Aljishi, Moeen Al-Sayed, Zuhair N. Al‐Hassnan, Fathiya Al Murshedi, Johannes Häberle, Tawfeg Ben‐Omran

    Vydáno 2016
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  8. 8
    A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

    A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients Autor Sara Musa, Wafaa Eyaid, Kimberli J. Kamer, Rehab Ali, Mariam Almureikhi, Noora Shahbeck, Fatma Al Mesaifri, Nawal Makhseed, Mohamed Zakkiriah, Wafaa Al‐Shehhi, Vamsi K. Mootha, Jane Juusola, Tawfeg Ben‐Omran

    Vydáno 2018
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  9. 9
    Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

    Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features Autor Mariam Almuriekhi, Takafumi Shintani, Somayyeh Fahiminiya, Akihiro Fujikawa, Kazuya Kuboyama, Yasushi Takéuchi, Zafar Nawaz, Javad Nadaf, Hussein Kamel, Abu Khadija Kitam, Zaineddin Samiha, Laila Mahmoud, Tawfeg Ben‐Omran, Jacek Majewski, Masaharu Noda

    Vydáno 2015
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  10. 10
    The first European consensus on principles of management for achondroplasia

    The first European consensus on principles of management for achondroplasia Autor Valérie Cormier‐Daire, Moeenaldeen AlSayed, Tawfeg Ben‐Omran, Sérgio B. Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillén‐Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike

    Vydáno 2021
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  11. 11
    Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia

    Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia Autor Tawfeg Ben‐Omran, L. Masana, Genovefa Kolovou, Gema Ariceta, Francisco J. Nóvoa, Allan M. Lund, Martin P. Bogsrud, Maria Lúcia Góes Araujo, Osamah Hussein, Daiana Ibarretxe, Rosa M. Sanchez-Hernández, Raúl D. Santos

    Vydáno 2019
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  12. 12
    Correction to: Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia

    Correction to: Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia Autor Tawfeg Ben‐Omran, L. Masana, Genovefa Kolovou, Gema Ariceta, Francisco J. Nóvoa, Allan M. Lund, Martin P. Bogsrud, Maria Lúcia Góes Araujo, Osamah Hussein, Daiana Ibarretxe, Rosa M. Sanchez-Hernández, Raúl D. Santos

    Vydáno 2024
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  13. 13
    Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

    Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice Autor Ranad Shaheen, Shams Anazi, Tawfeg Ben‐Omran, Mohammed Zain Seidahmed, L. Brianna Caddle, Kristina Palmer, Rehab Ali, Tarfa Alshidi, Samya Hagos, Leslie O. Goodwin, Mais Hashem, Salma M. Wakil, Mohamed Abouelhoda, Dilek Çolak, Stephen A. Murray, Fowzan S. Alkuraya

    Vydáno 2016
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  14. 14
    Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

    Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress Autor Hossam Montaser, Kashyap Patel, Diego Balboa, Hazem Ibrahim, Väinö Lithovius, Anna Näätänen, Vikash Chandra, Korcan Demir, Sezer Acar, Tawfeg Ben‐Omran, Kevin Colclough, Jonathan M. Locke, Matthew N. Wakeling, Maria Lindahl, Andrew T. Hattersley, Jonna Saarimäki‐Vire, Timo Otonkoski

    Vydáno 2021
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  15. 15
    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 Autor Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben‐Omran, Silvio Boero, Valérie Cormier‐Daire, Svein O. Fredwall, Encarna Guillén‐Navarro, Heike Hoyer‐Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa

    Vydáno 2023
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  16. 16
    De novo <i>POGZ</i> mutations are associated with neurodevelopmental disorders and microcephaly

    De novo <i>POGZ</i> mutations are associated with neurodevelopmental disorders and microcephaly Autor Yizhou Ye, Megan T. Cho, Kyle Retterer, Nora Alexander, Tawfeg Ben‐Omran, Mariam Almureikhi, Ingrid Cristian, Patricia G. Wheeler, Carrie Crain, Dina J. Zand, Veronique Weinstein, Hilary J. Vernon, Rebecca McClellan, Vidya Krishnamurthy, Patrik Vitazka, Francisca Millan, Wendy K. Chung

    Vydáno 2015
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  17. 17
    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia Autor Isaac Marin‐Valencia, Andreas Gerondopoulos, Maha S. Zaki, Tawfeg Ben‐Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez‐Gamboa, Anne Gregor, Mahmoud Y. Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Başak Rosti, Sara A. Wirth, Valentina Stanley, Frank Baas, Francis A. Barr, Joseph G. Gleeson

    Vydáno 2017
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  18. 18
    Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

    Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features Autor Anide Johansen, Rasim Özgür Rosti, Damir Musaev, Evan Sticca, Ricardo Harripaul, Maha S. Zaki, Ahmet Okay Çağlayan, Matloob Azam, Tipu Sultan, Tawfiq Froukh, André Reis, Bernt Popp, Iltaf Ahmed, Peter John, Muhammad Ayub, Tawfeg Ben‐Omran, John B. Vincent, Joseph G. Gleeson, Rami Abou Jamra

    Vydáno 2016
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  19. 19
    Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

    Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience Autor Nader Al‐Dewik, Howaida Mohd, Mariam Almureikhi, Rehab Ali, Fatma Al‐Mesaifri, Laila Mahmoud, Noora Shahbeck, Karen El‐Akouri, Mariam AlMulla, Reem Al Sulaiman, Sara Musa, Ajayeb Al‐Nabet Al‐Marri, Gabriele Richard, Jane Juusola, Benjamin D. Solomon, Fowzan S. Alkuraya, Tawfeg Ben‐Omran

    Vydáno 2019
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  20. 20
    Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

    Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies Autor Patrick Maffucci, Jose Chavez, Thomas J. Jurkiw, Patrick O’Brien, Jordan K. Abbott, Paul R. Reynolds, Austen Worth, Luigi D. Notarangelo, Kerstin Felgentreff, Patricia Cortés, Bertrand Boisson, Lin Radigan, Aurélie Cobat, Chitra Dinakar, Mohammad Ehlayel, Tawfeg Ben‐Omran, Erwin W. Gelfand, Jean‐Laurent Casanova, Charlotte Cunningham‐Rundles

    Vydáno 2018
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