Search Results - Mancini, Grazia

  • Showing 1 - 4 results of 4
Refine Results
  1. 1

    De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias by Harms, Frederike Leonie (Author) , Dingemans, Alexander J. M. (Author) , Hempel, Maja (Author) , Pfundt, Rolph (Author) , Bierhals, Tatjana (Author) , Casar, Christian (Author) , Müller, Christian (Author) , Niermeijer, Jikke-Mien F. (Author) , Fischer, Jan (Author) , Jahn, Arne (Author) , Hübner, Christoph (Author) , Majore, Silvia (Author) , Agolini, Emanuele (Author) , Novelli, Antonio (Author) , van der Smagt, Jasper (Author) , Ernst, Robert (Author) , van Binsbergen, Ellen (Author) , Mancini, Grazia M. S. (Author) , van Slegtenhorst, Marjon (Author) , Barakat, Tahsin Stefan (Author) , Wakeling, Emma L. (Author) , Kamath, Arveen (Author) , Downie, Lilian (Author) , Pais, Lynn (Author) , White, Susan M. (Author) , de Vries, Bert B. A. (Author) , Kutsche, Kerstin (Author) ,


    Get full text
    Article (Journal) Online Resource
  2. 2

    Correction: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias by Harms, Frederike Leonie (Author) , Dingemans, Alexander J. M. (Author) , Hempel, Maja (Author) , Pfundt, Rolph (Author) , Bierhals, Tatjana (Author) , Casar, Christian (Author) , Müller, Christian (Author) , Niermeijer, Jikke-Mien F. (Author) , Fischer, Jan (Author) , Jahn, Arne (Author) , Hübner, Christoph (Author) , Majore, Silvia (Author) , Agolini, Emanuele (Author) , Novelli, Antonio (Author) , van der Smagt, Jasper (Author) , Ernst, Robert (Author) , van Binsbergen, Ellen (Author) , Mancini, Grazia M. S. (Author) , van Slegtenhorst, Marjon (Author) , Barakat, Tahsin Stefan (Author) , Wakeling, Emma L. (Author) , Kamath, Arveen (Author) , Downie, Lilian (Author) , Pais, Lynn (Author) , White, Susan M. (Author) , de Vries, Bert B. A. (Author) , Kutsche, Kerstin (Author) ,


    Get full text
    Article (Journal) Online Resource
  3. 3

    ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria by Vetro, Annalisa (Author) , Nielsen, Hang N (Author) , Holm, Rikke (Author) , Hevner, Robert F (Author) , Parrini, Elena (Author) , Powis, Zoe (Author) , Møller, Rikke S (Author) , Bellan, Cristina (Author) , Simonati, Alessandro (Author) , Lesca, Gaétan (Author) , Helbig, Katherine L (Author) , Palmer, Elizabeth E (Author) , Mei, Davide (Author) , Ballardini, Elisa (Author) , Van Haeringen, Arie (Author) , Syrbe, Steffen (Author) , Leuzzi, Vincenzo (Author) , Cioni, Giovanni (Author) , Curry, Cynthia J (Author) , Costain, Gregory (Author) , Santucci, Margherita (Author) , Chong, Karen (Author) , Mancini, Grazia M S (Author) , Clayton-Smith, Jill (Author) , Bigoni, Stefania (Author) , Scheffer, Ingrid E (Author) , Dobyns, William B (Author) , Vilsen, Bente (Author) , Guerrini, Renzo (Author) ,


    Get full text
    Article (Journal) Online Resource
  4. 4

    Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder by Leen, Wilhelmina (Author) , Klepper, Joerg (Author) , Verbeek, Marcel M. (Author) , Leferink, Maike (Author) , Hofste, Tom (Author) , van Engelen, Baziel G. (Author) , Wevers, Ron A. (Author) , Arthur, Todd (Author) , Bahi-Buisson, Nadia (Author) , Ballhausen, Diana (Author) , Bekhof, Jolita (Author) , van Bogaert, Patrick (Author) , Carrilho, Inês (Author) , Chabrol, Brigitte (Author) , Champion, Michael P. (Author) , Coldwell, James (Author) , Clayton, Peter (Author) , Donner, Elizabeth (Author) , Evangeliou, Athanasios (Author) , Ebinger, Friedrich (Author) , Farrell, Kevin (Author) , Forsyth, Rob J. (Author) , de Goede, Christian G. E. L. (Author) , Gross, Stephanie (Author) , Grunewald, Stephanie (Author) , Holthausen, Hans (Author) , Jayawant, Sandeep (Author) , Lachlan, Katherine (Author) , Laugel, Vincent (Author) , Leppig, Kathy (Author) , Lim, Ming J. (Author) , Mancini, Grazia (Author) , Marina, Adela Della (Author) , Martorell, Loreto (Author) , McMenamin, Joe (Author) , Meuwissen, Marije E. C. (Author) , Mundy, Helen (Author) , Nilsson, Nils O. (Author) , Panzer, Axel (Author) , Poll-The, Bwee T. (Author) , Rauscher, Christian (Author) , Rouselle, Christophe M. R. (Author) , Sandvig, Inger (Author) , Scheffner, Thomas (Author) , Sheridan, Eamonn (Author) , Simpson, Neil (Author) , Sykora, Parol (Author) , Tomlinson, Richard (Author) , Trounce, John (Author) , Webb, David (Author) , Weschke, Bernhard (Author) , Scheffer, Hans (Author) , Willemsen, Michél A. (Author) ,


    Get full text
    Article (Journal) Online Resource