Search Results - Adrienn Máté

  • Showing 1 - 3 results of 3
Refine Results
  1. 1
    Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

    Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome by Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Hanène Benrhouma, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, N. Gouider‐Khouja, Enza Maria Valente

    Published 2014
    Get full text Get full text
    Carta
    Save to List
    Saved in:
  2. 2
    Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

    Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III by Isabelle Thiffault, Nicole I. Wolf, Diane Forget, Kether Guerrero, Luan T. Tran, Karine Choquet, Mathieu Lavallée‐Adam, Christian Poitras, Bernard Brais, Grace Yoon, László Sztriha, Richard Webster, Dagmar Timmann, Bart P.C. van de Warrenburg, Jürgen Seeger, Alíz Zimmermann, Adrienn Máté, Cyril Goizet, Eva Fung, Marjo S. van der Knaap, Sébastien Fribourg, Adeline Vanderver, Cas Simons, Ryan J. Taft, John R. Yates, Benoit Coulombe, Geneviève Bernard

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations by Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer, Jonathan Berg, Niklas Darín, Abhijit Dixit, Joël Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas S. Jacques, Mary D. King, Periklis Makrythanasis, Adrienn Máté, James A. R. Nicoll, Declan O’Rourke, Sue Price, Andrew N. Williams, Louise C. Wilson, Mohnish Suri, László Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles B.L.M. Majoie, Henk A. Marquering, Bwee Tien Poll‐The, Frank Baas

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: