Suchergebnisse - Irene Stolte‐Dijkstra

  • Treffer 1 - 11 von 11
Treffer weiter einschränken
  1. 1
    Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

    Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy von Gail C. Jackson, D. Marcus‐Soekarman, Irene Stolte‐Dijkstra, Aad Verrips, Jacqueline Taylor, Michael D. Briggs

    Veröffentlicht 2010
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  2. 2
    Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

    Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene von Ronald H. Lekanne Deprez, J J Muurling-Vlietman, J Hruda, Marieke J.H. Baars, Liliane C. D. Wijnaendts, Irene Stolte‐Dijkstra, Mariëlle Alders, Johanna M. van Hagen

    Veröffentlicht 2006
    Volltext
    Carta
    Zu den Favoriten
    Gespeichert in:
  3. 3
    Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

    Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis von Yvonne J. Vos, Hermien E. K. de Walle, K. K. Bos, Arjan Stegeman, Annelies M. ten Berge, Monique J. Bruining, Merel C. van Maarle, Mariet W. Elting, Nicolette S. den Hollander, B Hamel, Ana María Fortuna, Lone Sunde, Irene Stolte‐Dijkstra, C. T. R. M. Schrander‐Stumpel, Robert M.W. Hofstra

    Veröffentlicht 2009
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  4. 4
    Nicolaides–Baraitser syndrome: Delineation of the phenotype

    Nicolaides–Baraitser syndrome: Delineation of the phenotype von Sérgio B. Sousa, Omar Abdul‐Rahman, Armand Bottani, Valérie Cormier‐Daire, Alan Fryer, Gabriele Gillessen‐Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex Magee, Fanny Morice‐Picard, Elizabeth C. Rosser, Ajoy Sarkar, Nora Shannon, Irene Stolte‐Dijkstra, Alain Verloès, Emma Wakeling, Louise C. Wilson, Raoul C. M. Hennekam

    Veröffentlicht 2009
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  5. 5
    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects von Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mıhçı, Christopher T. Gordon, Elisabeth Steichen‐Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte‐Dijkstra, Albertien M. van Eerde, Koen L.I. van Gassen, Corstiaan C. Breugem, Alexander P.A. Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Münnich, Dulce Papy‐Garcia, Muriel De La Dure‐Molla, Valérie Cormier‐Daire

    Veröffentlicht 2018
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  6. 6
    Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

    Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 von Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine Leh, Marit Midtbø, Emilie Filhol, Christine Bôle‐Feysot, Patrick Nitschké, Christian Gilissen, Olav H. Haugen, Jan‐Stephan Sanders, Irene Stolte‐Dijkstra, Dorus A. Mans, Eric J. Steenbergen, Ben C.J. Hamel, Marie Matignon, Rolph Pfundt, Marc Jeanpierre, Helge Boman, Eyvind Rødahl, Joris A. Veltman, Per M. Knappskog, Nine Knoers, Ronald Roepman, Heleen H. Arts

    Veröffentlicht 2011
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  7. 7
    X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

    X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 von Noriko Miyake, Nicole I. Wolf, Ferdy Kurniawan Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J. Bent, Karen W. Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura‐Ohba, Zoya Kingsbury, Bryan R. Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J. Sinke, Deborah A. Sival, Irene Stolte‐Dijkstra, Andrea Superti‐Furga, Nicole Ulrick, Ryan J. Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A. Neubauer, Cas Simons, Adeline Vanderver

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  8. 8
    MLL2 mutation spectrum in 45 patients with Kabuki syndrome

    MLL2 mutation spectrum in 45 patients with Kabuki syndrome von Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok, Demis Tserpelis, Crool Posma-Velter, Yvonne Detisch, Eric Smeets, Annemieke Wagemans, Jaap J.P. Schrander, Marie-José H. van den Boogaard, Jasper van der Smagt, Arie van Haeringen, Irene Stolte‐Dijkstra, Wilhelmina S. Kerstjens‐Frederikse, Grazia M.S. Mancini, Marja W. Wessels, Raoul C. M. Hennekam, Maaike Vreeburg, Joep Geraedts, Thomy de Ravel, Jean‐Pierre Fryns, Hubert Smeets, Koenraad Devriendt, C. T. R. M. Schrander‐Stumpel

    Veröffentlicht 2010
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  9. 9
    Myhre and LAPS syndromes: clinical and molecular review of 32 patients

    Myhre and LAPS syndromes: clinical and molecular review of 32 patients von Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S. Brooks, Philippe M. Campeau, Anne Destrèe, Maja Di Rocco, Dian Donnai, Raoul C. M. Hennekam, Delphine Héron, Sébastien Jacquemont, Pekka Kannus, Angela E. Lin, Sylvie Manouvrier‐Hanu, Sahar Mansour, Sandrine Marlin, Ruth McGowan, Helen Murphy, Annick Raas‐Rothschild, Marlène Rio, Marleen Simon, Irene Stolte‐Dijkstra, James R. Stone, Yves Sznajer, John Tolmie, Renaud Touraine, Jenneke van den Ende, Nathalie Van der Aa, Ton van Essen, Alain Verloès, Arnold Münnich, Valérie Cormier‐Daire

    Veröffentlicht 2014
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  10. 10
    Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

    Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa von Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abigail Loh, Graham Wright, Jaron Liu, Elisa Rahikkala, Enikö K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Żemojtel, Conny M.A. van Ravenswaaij‐Arts, Roya Mostafavi, Irene Stolte‐Dijkstra, Sofie Symoens, L. Pajunen, Lihadh Al‐Gazali, David Meierhofer, Peter N. Robinson, Stefan Mundlos, Camilo E. Villarroel, Peter H. Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade, Uwe Kornak

    Veröffentlicht 2015
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  11. 11
    Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

    Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias von Carine Le Goff, Clémentine Mahaut, Lauren W. Wang, Slimane Allali, Avinash Abhyankar, Sacha A. Jensen, Louise Zylberberg, Gwenaëlle Collod‐Béroud, Damien Bonnet, Yasemin Alanay, Angela F. Brady, Marie‐Pierre Cordier, Koenraad Devriendt, David Geneviève, Pelin Özlem Şimşek‐Kiper, Hiroshi Kitoh, Deborah Krakow, Sally Ann Lynch, M Le Merrer, André Mégarbané, Geert Mortier, Sylvie Odent, Michel Polak, Marianne Rohrbach, David Sillence, Irene Stolte‐Dijkstra, Andrea Superti‐Furga, David L. Rimoin, Vicken Topouchian, Sheila Unger, Bernhard Zabel, Christine Bôle‐Feysot, Patrick Nitschké, Penny A. Handford, Jean‐Laurent Casanova, Cathérine Boileau, Suneel Apte, Arnold Münnich, Valérie Cormier‐Daire

    Veröffentlicht 2011
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:

Suchwerkzeuge: