Результаты поиска - Janine Wagenstaller

  • Отображение 1 - 5 результаты of 5
Отмена результатов
  1. 1
    Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation

    Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation по Janine Wagenstaller, Stephanie Spranger, Bettina Lorenz‐Depiereux, Bernd Kazmierczak, Michaela Nathrath, Dagmar Wahl, Babett Heye, Dieter Gläser, Volkmar Liebscher, Thomas Meitinger, Tim M. Strom

    Опубликовано 2007
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  2. 2
    Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3

    Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3 по Bettina Lorenz‐Depiereux, Anna Benet‐Pagès, Gertrud Eckstein, Yardena Tenenbaum‐Rakover, Janine Wagenstaller, Dov Tiosano, Ruth Gershoni‐Baruch, Norbert Albers, Peter Lichtner, Dirk Schnabel, Ze’ev Hochberg, Tim M. Strom

    Опубликовано 2006
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  3. 3
    DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

    DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis по Bettina Lorenz‐Depiereux, Murat Bastepe, Anna Benet‐Pagès, Mustapha Amyere, Janine Wagenstaller, Ursula Müller-Barth, Klaus Badenhoop, Stéphanie Kaiser, Roger S. Rittmaster, Alan H Shlossberg, José L. Olivares, C Loris, Feliciano J. Ramos, Francis H. Glorieux, Miikka Vikkula, Harald Jüppner, Tim M. Strom

    Опубликовано 2006
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  4. 4
    Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

    Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits по Denise Horn, Johannes Kapeller, Núria Rivera‐Bruguès, Ute Moog, Bettina Lorenz‐Depiereux, Sebastian Eck, Maja Hempel, Janine Wagenstaller, Alex J.T. Gawthrope, Anthony P. Monaco, Michael Bonin, Olaf Rieß, Eva Wohlleber, Thomas Illig, Connie R. Bezzina, André Franke, Stephanie Spranger, Pablo Villavicencio‐Lorini, Wenke Seifert, Jochen Rosenfeld, Eva Klopocki, Gudrun Rappold, Tim M. Strom

    Опубликовано 2010
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  5. 5
    Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

    Clinical and molecular delineation of the 17q21.31 microdeletion syndrome по David A. Koolen, Andrew J. Sharp, Jane A. Hurst, Helen V. Firth, Samantha J.L. Knight, Alice Goldenberg, Pascale Saugier‐Veber, Rolph Pfundt, Lisenka E.L.M. Vissers, Anne Destrèe, Bernard Grisart, Liesbeth Rooms, Nathalie Van der Aa, Michael Field, Anna Hackett, Katrina M. Bell, M.J.M. Nowaczyk, Grazia M.S. Mancini, Pino J. Poddighe, Charles E. Schwartz, Elena Rossi, Manuela De Gregori, Lucinda Antonacci-Fulton, Michael D. McLellan, J M Garrett, Maddy Wiechert, Tracie L. Miner, Seth D. Crosby, Roberto Ciccone, Lionel Willatt, Anita Rauch, Martin Zenker, Swaroop Aradhya, Melanie A. Manning, Tim M. Strom, Janine Wagenstaller, Ana Cristina Victorino Krepischi, Angela Maria Vianna‐Morgante, Carla Rosenberg, Sue Price, Helen Stewart, Charles Shaw‐Smith, Han G. Brunner, Andrew O.M. Wilkie, Joris A. Veltman, Orsetta Zuffardi, Evan E. Eichler, Bert B.A. de Vries

    Опубликовано 2008
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:

Инструменты поиска: