Resultats de la cerca - Axel Bohring

  • Mostrar 1 - 9 resultats de 9
Refinar resultats
  1. 1
    WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

    WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes per Axel Bohring, Thomas Stamm, Christiane Spaich, Claudia M. Haase, Kerstin Spree, Ute Hehr, Mandy Hoffmann, Susanne Ledig, Saadettin Sel, Peter Wieacker, Albrecht Röpke

    Publicat 2009
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  2. 2
    Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

    Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics per Gabriele Wildhardt, Birgit Zirn, Luitgard Graul‐Neumann, Juliane Wechtenbruch, M. Suckfüll, Annegret Buske, Axel Bohring, Christian Kubisch, Stefanie Vogt, Gertrud Strobl‐Wildemann, Marie T. Greally, Oliver Bartsch, Daniela Steinberger

    Publicat 2013
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  3. 3
    The face of Noonan syndrome: Does phenotype predict genotype

    The face of Noonan syndrome: Does phenotype predict genotype per Judith Allanson, Axel Bohring, Helmuth‐Guenther Dörr, Andreas Dufke, G Gillessen‐Kaesbach, Denise Horn, Rainer König, Christian P. Kratz, Kerstin Kutsche, Silke Pauli, Salmo Raskin, Anita Rauch, Anne‐Marie W. Turner, Dagmar Wieczorek, Martin Zenker

    Publicat 2010
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  4. 4
    47 patients with FLNA associated periventricular nodular heterotopia

    47 patients with FLNA associated periventricular nodular heterotopia per Max Lange, Burkhard S. Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, A. Ferbert, Andreas Hahn, Barbara Oehl‐Jaschkowitz, Luitgard Graul‐Neumann, Katharina Diepold, Isolde Schreyer, Matthias K. Bernhard, Franziska Mueller, Ulrike Siebers‐Renelt, Ana Beleza‐Meireles, Goekhan Uyanik, Sandra Janssens, Eugen Boltshauser, Jürgen Winkler, Gerhard Schuierer, Ute Hehr

    Publicat 2015
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  5. 5
    Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

    Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype per Emma M. Wade, Zandra A. Jenkins, Philip B. Daniel, Tim Morgan, Marie Claude Addor, Lesley C. Adès, Débora Romeo Bertola, Axel Bohring, Erin Carter, Tae‐Joon Cho, Christa M. de Geus, Hans‐Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C. M. Hennekam, Chong Ae Kim, Deborah Krakow, Éva Morava, Teresa Neuhann, David O. Sillence, Andrea Superti‐Furga, Hermine E. Veenstra‐Knol, Dagmar Wieczorek, Louise C. Wilson, David Markie, Stephen P. Robertson

    Publicat 2017
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  6. 6
    Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

    Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies per Tobias Eisenberger, Christine Neuhaus, Arif O. Khan, Christian Decker, Markus N. Preising, Christoph Friedburg, Bieg Anika, Martin Gliem, Peter Charbel Issa, Frank G. Holz, Shahid Mahmood Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, S. Körtge‐Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y. Al‐Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S. Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J. Bolz

    Publicat 2013
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  7. 7
    Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

    Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia per Emma M. Wade, Philip B. Daniel, Zandra A. Jenkins, Aideen M. McInerney‐Leo, Paul Leo, Tim Morgan, Marie Claude Addor, Lesley C. Adès, Débora Romeo Bertola, Axel Bohring, Erin Carter, Tae‐Joon Cho, Hans-Christoph Duba, Elaine Fletcher, Chong Ae Kim, Deborah Krakow, Éva Morava, Teresa Neuhann, Andrea Superti‐Furga, Irma Veenstra-Knol, Dagmar Wieczorek, Louise C. Wilson, Raoul C. M. Hennekam, Andrew J. Sutherland‐Smith, Tim M. Strom, Andrew O.M. Wilkie, Matthew A. Brown, Emma L. Duncan, David Markie, Stephen P. Robertson

    Publicat 2016
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  8. 8
    <i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond

    <i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond per Ilaria Parenti, Mark Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, Carolina Baquero‐Montoya, Axel Bohring, Nuria C. Bramswig, Andreas Busche, Andreas Dalski, Yiran Guo, Britta Hanker, Yorck Hellenbroich, Denise Horn, A. Micheil Innes, Chiara Leoni, Leslie A. Lange, Sally Ann Lynch, Milena Mariani, Līvija Medne, Barbara Mikat, Donatella Milani, Roberta Onesimo, Xilma R. Ortiz‐González, Eva Christina Prott, Heiko Reutter, Eva Rossier, Angelo Selicorni, Peter Wieacker, Alisha Wilkens, Dagmar Wieczorek, Elaine H. Zackai, Giuseppe Zampino, Birgit Zirn, Hákon Hákonarson, Matthew A. Deardorff, Gabriele Gillessen‐Kaesbach, Frank J. Kaiser

    Publicat 2021
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  9. 9
    Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

    Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain per Partha Sen, Yaping Yang, C. Navarro, Iris A. L. Silva, Przemysław Szafrański, Katarzyna Kołodziejska, Avinash V. Dharmadhikari, Hasnaa R. Mostafa, Harry P. Kozakewich, Debra L. Kearney, John B. Cahill, Merrissa Whitt, Masha Bilic, Linda R. Margraf, Adrian Charles, Jack Goldblatt, Kathleen Gibson, Patrick E. Lantz, A. Julian Garvin, John K. Petty, Zeina Kiblawi, Craig W. Zuppan, Allyn McConkie‐Rosell, Marie McDonald, Stacey L. Peterson‐Carmichael, Jane T. Gaede, Binoy Shivanna, Deborah Schady, Philippe Friedlich, Stephen R. Hays, Irene Valenzuela, Ulrike Siebers‐Renelt, Axel Bohring, Laura S. Finn, Joseph R. Siebert, Csaba Galambos, Lananh Nguyen, Melissa Riley, Nicolas Chassaing, Adeline Vigouroux, Gustavo Rocha, Susana Fernandes, Jane E. Brumbaugh, Kari E. Roberts, Luk Ho-Ming, Ivan F. M. Lo, Stephen T.S. Lam, Romana Gerychová, Marta Ježová, Iveta Valášková, Florence Fellmann, Katayoun Afshar, Éric Giannoni, Vincent Muhlethaler, Jinlong Liang, J. Beckmann, Janet Lioy, Hitesh Deshmukh, Lakshmi Srinivasan, Daniel T. Swarr, Melissa Sloman, Charles Shaw‐Smith, Rosa Laura van Loon, Cecilia Hagman, Yves Sznajer, Catherine Barréa, Christine Galant, Thierry Detaille, Jennifer Wambach, F. Sessions Cole, Aaron Hamvas, Lawrence S. Prince, Karin E. M. Diderich, Alice S. Brooks, Robert M. Verdijk, Hari Ravindranathan, Ella Sugo, David Mowat, Michael Baker, Claire Langston, Stephen E. Welty, Paweł Stankiewicz

    Publicat 2013
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:

Eines de cerca: