Search Results - Spranger, Stephanie

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome by Coenen-Van der Spek, Jet (Author) , den Hoed, Joery (Author) , Snijders Blok, Lot (Author) , Dingemans, Alexander J. M. (Author) , Schijven, Dick (Author) , Nellaker, Christoffer (Author) , Venselaar, Hanka (Author) , Astuti, Galuh D. N. (Author) , Barakat, Tahsin Stefan (Author) , Bebin, E. Martina (Author) , Beck-Wödl, Stefanie (Author) , Beunders, Gea (Author) , Brown, Natasha J. (Author) , Brunet, Theresa (Author) , Brunner, Han G. (Author) , Campeau, Philippe M. (Author) , Čuturilo, Goran (Author) , Gilissen, Christian (Author) , Haack, Tobias B. (Author) , Hüning, Irina (Author) , Husain, Ralf A. (Author) , Kamien, Benjamin (Author) , Lim, Sze Chern (Author) , Lovrecic, Luca (Author) , Magg, Janine (Author) , Maver, Ales (Author) , Miranda, Valancy (Author) , Monteil, Danielle C. (Author) , Ockeloen, Charlotte W. (Author) , Pais, Lynn S. (Author) , Plaiasu, Vasilica (Author) , Raiti, Laura (Author) , Richmond, Christopher (Author) , Rieß, Angelika (Author) , Schwaibold, Eva (Author) , Simon, Marleen E. H. (Author) , Spranger, Stephanie (Author) , Tan, Tiong Yang (Author) , Thompson, Michelle L. (Author) , de Vries, Bert B. A. (Author) , Wilkins, Ella J. (Author) , Willemsen, Marjolein H. (Author) , Francks, Clyde (Author) , Vissers, Lisenka E. L. M. (Author) , Fisher, Simon E. (Author) , Kleefstra, Tjitske (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation by Kouz, Karim (Author) , Lißewski, Christina (Author) , Spranger, Stephanie (Author) , Mitter, Diana (Author) , Riess, Angelika (Author) , Lopez-Gonzalez, Vanesa (Author) , Lüttgen, Sabine (Author) , Aydin, Hatip (Author) , Deimling, Florian von (Author) , Evers, Christina (Author) , Hahn, Andreas (Author) , Hempel, Maja (Author) , Issa, Ulrike (Author) , Kahlert, Anne-Karin (Author) , Lieb, Adrian (Author) , Villavicencio Lorini, Pablo (Author) , Ballesta-Martinez, Maria Juliana (Author) , Nampoothiri, Sheela (Author) , Ovens-Raeder, Angela (Author) , Puchmajerová, Alena (Author) , Satanovskij, Robin (Author) , Seidel, Heide (Author) , Unkelbach, Stephan (Author) , Zabel, Bernhard (Author) , Kutsche, Kerstin (Author) , Zenker, Martin (Author) ,

• Resolving-System, Volltext

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

• Resolving-System, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

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

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Distinctive pitted enamel hypoplasia and short stature by Koch, Martin Jean (Author) , Spranger, Stephanie (Author) , Bettendorf, Markus (Author) ,

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome by Wöginger, Simone (Author) , Spranger, Stephanie (Author) , Wogatzky, Birgit (Author) , Fukami, Maki (Author) , Merker, Sabine (Author) , Drop, Stenvert (Author) , Tröger, Jochen (Author) , Knoblauch, Hans (Author) , Kunze, Jürgen (Author) , Seidel, Jörg (Author) , Rappold, Gudrun (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3 by Spranger, Stephanie (Author) , Wöginger, Simone (Author) , Jauch, Anna (Author) , Wolff, Kathrin (Author) , Rauterberg-Ruland, Inge (Author) , Hager, Dieter (Author) , Tariverdian, Gholamali (Author) , Tröger, Jochen (Author) , Rappold, Gudrun (Author) ,

• Resolving-System, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Das Krankheitsbild der myotonen Muskeldystrophie bei Patienten mit großer CTG-Tripletexpansion by Spranger, Matthias (Author) , Janssen, Bart (Author) , Rating, Dietz (Author) , Spranger, Stephanie (Author) ,

• Verlag, lizenzpflichtig, Volltext

Das klinische Spektrum des Holt-Oram-Syndroms by Spranger, Stephanie (Author) , Tröger, Jochen (Author) , Ulmer, Herbert E. (Author) , Spranger, Matthias (Author) ,

• Resolving-System, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

MIDAS-Syndrom: eine X-chromosomale Erkrankung; Differentialdiagnose zum kongenitalen Varizellensyndrom by Spranger, Stephanie (Author) , Stute, Heiko (Author) , Blankenagel, Anita (Author) , Jauch, Anna (Author) , Hager, Doris (Author) , Tariverdian, Gholamali (Author) ,

• Verlag, lizenzpflichtig, Volltext

Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height by Spranger, Stephanie (Author) , Kirsch, S. (Author) , Mertz, A. (Author) , Schiebel, Katrin (Author) , Tariverdian, Gholamali (Author) , Rappold, Gudrun (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course; a case report by Spranger, Stephanie (Author) , Tariverdian, Gholamali (Author) , Albert, Friedrich (Author) , Sontheimer, Dieter (Author) , Zöller, Joachim E. (Author) , Weber, M. (Author) , Tröger, Jochen (Author) ,

• Verlag, lizenzpflichtig, Volltext