Skip to contents

  1. Fredwall, Svein [Author]; Allum, Yana [Author]; AlSayed, Moeenaldeen [Author]; Alves, Inês [Author]; Ben-Omran, Tawfeg [Author]; Boero, Silvio [Author]; Cormier-Daire, Valerie [Author]; Guillen-Navarro, Encarna [Author]; Irving, Melita [Author]; Lampe, Christian [Author]; Maghnie, Mohamad [Author]; Mohnike, Klaus [Author]; Mortier, Geert [Author]; Sousa, Sérgio B. [Author]; Wright, Michael [Author]

    Optimising care and follow-up of adults with achondroplasia

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    2022

    Published in: Orphanet journal of rare diseases ; 17(2022), Artikel-ID 318

  2. Cormier-Daire, Valerie [Author]; AlSayed, Moeenaldeen [Author]; Alves, Inês [Author]; Bengoa, Joana [Author]; Ben-Omran, Tawfeg [Author]; Boero, Silvio [Author]; Fredwall, Svein [Author]; Garel, Catherine [Author]; Guillen-Navarro, Encarna [Author]; Irving, Melita [Author]; Lampe, Christian [Author]; Maghnie, Mohamad [Author]; Mortier, Geert [Author]; Sousa, Sérgio B. [Author]; Mohnike, Klaus [Author]

    Optimising the diagnosis and referral of achondroplasia in Europe : European Achondroplasia Forum best practice recommendations

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    2022

    Published in: Orphanet journal of rare diseases ; 17(2022), Artikel-ID 293

  3. Cormier-Daire, Valerie [Author]; AlSayed, Moeenaldeen [Author]; Ben-Omran, Tawfeg [Author]; Sousa, Sérgio Bernardo de [Author]; Boero, Silvio [Author]; Fredwall, Svein O. [Author]; Guillen-Navarro, Encarna [Author]; Irving, Melita [Author]; Lampe, Christian [Author]; Maghnie, Mohamad [Author]; Mortier, Geert [Author]; Peijin, Zagorka [Author]; Mohnike, Klaus [Author]

    The first European consensus on principles of management for achondroplasia

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    2021

    Published in: Orphanet journal of rare diseases ; 16(2021), Artikel-ID 333

  4. Irving, Melita [Author]; AlSayed, Moeenaldeen [Author]; Arundel, Paul [Author]; Baujat, Geneviève [Author]; Ben-Omran, Tawfeg [Author]; Boero, Silvio [Author]; Cormier-Daire, Valérie [Author]; Fredwall, Svein [Author]; Guillen-Navarro, Encarna [Author]; Hoyer-Kuhn, Heike-Katharina [Author]; Kunkel, Philip Oskar Sean [Author]; Lampe, Christian Gerhard [Author]; Maghnie, Mohamad [Author]; Mohnike, Klaus [Author]; Mortier, Geert [Author]; Sousa, Sérgio B. [Author]

    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    2023

    Published in: Orphanet journal of rare diseases ; 18(2023), Artikel-ID 219, Seite 1-8

  5. Alanay, Yasemin [Author]; Mohnike, Klaus [Author]; Nilsson, Ola [Author]; Alves, Inês [Author]; AlSayed, Moeenaldeen [Author]; Appelman-Dijkstra, Natasha M. [Author]; Baujat, Genevieve [Author]; Ben-Omran, Tawfeg [Author]; Breyer, Sandra Rafaela [Author]; Cormier-Daire, Valerie [Author]; Gregersen, Pernille Axél [Author]; Guillén-Navarro, Encarna [Author]; Högler, Wolfgang [Author]; Maghnie, Mohamad [Author]; Mukherjee, Swati [Author]; Cohen, Shelda [Author]; Pimenta, Jeanne [Author]; Selicorni, Angelo [Author]; Semler, Jörg Oliver [Author]; Sigaudy, Sabine [Author]; Popkov, Dmitry [Author]; Sabir, Ian [Author]; Noval, Susana [Author]; Sessa, Marco [Author];

    Real-world evidence in achondroplasia : considerations for a standardized data set

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    2023

    Published in: Orphanet journal of rare diseases ; 18(2023), Artikel-ID 166

  6. Al-Dewik, Nader [Author]; Ali, Alaa [Author]; Mahmoud, Yassmin [Author]; Shahbeck, Noora [Author]; Ali, Rehab [Author]; Mahmoud, Laila [Author]; Al‐Mureikhi, Mariam [Author]; Al‐Mesaifri, Fatma [Author]; Musa, Sara [Author]; El‐Akouri, Karen [Author]; Almulla, Mariam [Author]; Al Saadi, Reem [Author]; Nasrallah, Gheyath K. [Author]; Samara, Muthanna [Author]; Abdoh, Ghassan [Author]; Al Rifai, Hilal [Author]; Häberle, Johannes [Author]; Thöny, Beat [Author]; Kruger, Warren [Author]; Blom, Henk J. [Author]; Ben-Omran, Tawfeg [Author]

    Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population

    Books
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Hoboken, NJ: Wiley, 2019

    Published in: Journal of inherited metabolic disease ; 42, 5 (2019), 818-830

  17. Osman, Mahmoud; Ross, Elizabeth; Abdel Aleem, Alice; Ibrahim, Khalid; Tawfeg, Ben-Omran; Kamel, Hussein

    Whole Genome Sequencing Identifies a Novel Occludin Mutation in Microcephaly with Band-like Calcification and Polymicrogyria that Extends the Phenotypic Spectrum (P1.343)

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Ovid Technologies (Wolters Kluwer Health), 2014

    Published in: Neurology, 82 (2014) 10_supplement