Search Results

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants by Mitter, Diana (Author) , Pringsheim, Milka (Author) , Kaulisch, Marc (Author) , Plümacher, Kim Sarah (Author) , Schröder, Simone (Author) , Warthemann, Rita (Author) , Abou Jamra, Rami (Author) , Baethmann, Martina (Author) , Bast, Thomas (Author) , Büttel, Hans-Martin (Author) , Cohen, Julie S. (Author) , Conover, Elizabeth (Author) , Courage, Carolina (Author) , Eger, Angelika (Author) , Fatemi, Ali (Author) , Grebe, Theresa A. (Author) , Hauser, Natalie S. (Author) , Heinritz, Wolfram (Author) , Helbig, Katherine L. (Author) , Heruth, Marion (Author) , Huhle, Dagmar (Author) , Höft, Karen (Author) , Karch, Stephanie (Author) , Kluger, Gerhard (Author) , Korenke, Christoph (Author) , Lemke, Johannes R. (Author) , Lutz, Richard E. (Author) , Patzer, Steffi (Author) , Prehl, Isabelle (Author) , Hoertnagel, Konstanze (Author) , Ramsey, Keri (Author) , Rating, Tina (Author) , Rieß, Angelika (Author) , Rohena, Luis (Author) , Schimmel, Mareike (Author) , Westman, Rachel (Author) , Zech, Frank-Martin (Author) , Zoll, Barbara (Author) , Malzahn, Dörthe (Author) , Zirn, Birgit (Author) , Brockmann, Knut (Author) ,

• Resolving-System, kostenfrei, Volltext

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population by Wang, Ruifang (Author) , Blau, Nenad (Author) ,

• Verlag, Volltext

Genetic alterations crossing the borders of distinct hematopoetic lineages and solid tumors: Diagnostic challenges in the era of high-throughput sequencing in hemato-oncology by Shumilov, Evgenii (Author) , Flach, Johanna (Author) ,

• Verlag, Volltext

Hot-spot KIF5A mutations cause familial ALS by Brenner, David (Author) , Yılmaz, Rüstem (Author) , Müller, Kathrin (Author) , Grehl, Torsten (Author) , Petri, Susanne (Author) , Meyer, Thomas (Author) , Großkreutz, Julian (Author) , Weydt, Patrick (Author) , Ruf, Wolfgang (Author) , Neuwirth, Christoph (Author) , Weber, Markus (Author) , Pinto, Susana (Author) , Claeys, Kristl G. (Author) , Schrank, Berthold (Author) , Jordan, Berit (Author) , Knehr, Antje (Author) , Günther, Kornelia (Author) , Hübers, Annemarie (Author) , Zeller, Daniel (Author) , Kubisch, Christian (Author) , Jablonka, Sibylle (Author) , Sendtner, Michael (Author) , Klopstock, Thomas (Author) , de Carvalho, Mamede (Author) , Sperfeld, Anne (Author) , Borck, Guntram (Author) , Volk, Alexander E. (Author) , Dorst, Johannes (Author) , Weis, Joachim (Author) , Otto, Markus (Author) , Schuster, Joachim (Author) , Del Tredici, Kelly (Author) , Braak, Heiko (Author) , Danzer, Karin M. (Author) , Freischmidt, Axel (Author) , Meitinger, Thomas (Author) , Strom, Tim M. (Author) , Ludolph, Albert C. (Author) , Andersen, Peter M. (Author) , Weishaupt, Jochen H. (Author) ,

The phenotypic spectrum of nephropathies associated with mutations in diacylglycerol kinase ε by Azukaitis, Karolis (Author) , Schaefer, Franz (Author) ,

• Verlag, Volltext

Molecular stratification of medulloblastoma: comparison of histological and genetic methods to detect Wnt activated tumours by Goschzik, Tobias (Author) , Pfister, Stefan (Author) ,

• Verlag, Volltext

Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation by Arnold, Andreas (Author) , Haußer-Siller, Ingrid (Author) ,

• Verlag, Volltext

Uterine fibroids: do we deal with more than one disease? by Markowski, Dominique Nadine (Author) , Helmke, Burkhard Maria (Author) , Bartnitzke, Sabine (Author) , Löning, Thomas (Author) , Bullerdiek, Jörn (Author) ,

• Verlag, lizenzpflichtig, Volltext

Application of a BRAF V600E mutation-specific antibody for the diagnosis of hairy cell leukemia by Andrulis, Mindaugas (Author) , Penzel, Roland (Author) , Weichert, Wilko (Author) , Deimling, Andreas von (Author) , Capper, David (Author) ,

• Verlag, Volltext
• Verlag, Volltext

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations by Pfarr, Nicole (Author) , Szamalek-Hoegel, Justyna (Author) , Fischer, Christine (Author) , Hinderhofer, Katrin (Author) , Nagel, Christian (Author) , Benjamin, Nicola (Author) , Tiede, Henning (Author) , Olschewski, Horst (Author) , Reichenberger, Frank (Author) , Ghofrani, Ardeschir H. A. (Author) , Seeger, Werner (Author) , Grünig, Ekkehard (Author) ,

• Verlag, lizenzpflichtig, Volltext

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone by Bleyer, Anthony J. (Author) , Zivná, M. (Author) , Hulková, H. (Author) , Hodanová, K. (Author) , Vyletal, P. (Author) , Sikora, J. (Author) , Zivný, J. (Author) , Sovová, J. (Author) , Hart, T. C. (Author) , Adams, J. N. (Author) , Elleder, M. (Author) , Kapp, Katharina (Author) , Haws, R. (Author) , Cornell, L. D. (Author) , Kmoch, S. (Author) , Hart, P. S. (Author) ,

Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male by Stuppia, Liborio (Author) , Calabrese, Gaetano (Author) , Borrelli, P. (Author) , Gatta, V. (Author) , Morizio, E. (Author) , Mingarelli, R. (Author) , Di Gilio, M. C. (Author) , Crinò, A. (Author) , Giannotti, A. (Author) , Rappold, Gudrun (Author) , Palka, Giandomenico (Author) ,

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