Search Results - Engels, Hartmut

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings by Schmidt, Axel (Author) , Danyel, Magdalena (Author) , Grundmann-Hauser, Kathrin (Author) , Brunet, Theresa (Author) , Klinkhammer, Hannah (Author) , Hsieh, Tzung-Chien (Author) , Engels, Hartmut (Author) , Schlapakow, Elena (Author) , Hempel, Maja (Author) , Tibelius, Alexandra (Author) , Schwaibold, Eva (Author) , Schaaf, Christian P. (Author) , Zawada, Michal (Author) , Kaufmann, Lilian (Author) , Hinderhofer, Katrin (Author) , Okun, Pamela M. (Author) , Kotzaeridou, Urania (Author) , Hoffmann, Georg F. (Author) , Choukair, Daniela (Author) , Bettendorf, Markus (Author) ,

• Resolving-System, kostenfrei
• Resolving-System, kostenfrei

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics by Begemann, Anaïs (Author) , Sticht, Heinrich (Author) , Begtrup, Amber (Author) , Vitobello, Antonio (Author) , Faivre, Laurence (Author) , Banka, Siddharth (Author) , Alhaddad, Bader (Author) , Asadollahi, Reza (Author) , Becker, Jessica (Author) , Bierhals, Tatjana (Author) , Brown, Kathleen E. (Author) , Bruel, Ange-Line (Author) , Brunet, Theresa (Author) , Carneiro, Maryline (Author) , Cremer, Kirsten (Author) , Day, Robert (Author) , Denommé-Pichon, Anne-Sophie (Author) , Dyment, Dave A. (Author) , Engels, Hartmut (Author) , Fisher, Rachel (Author) , Goh, Elaine S. (Author) , Hajianpour, M. J. (Author) , Haertel, Lucia Ribeiro Machado (Author) , Hauer, Nadine (Author) , Hempel, Maja (Author) , Herget, Theresia (Author) , Johannsen, Jessika (Author) , Kraus, Cornelia (Author) , Le Guyader, Gwenaël (Author) , Lesca, Gaetan (Author) , Mau-Them, Frédéric Tran (Author) , McDermott, John Henry (Author) , McWalter, Kirsty (Author) , Meyer, Pierre (Author) , Õunap, Katrin (Author) , Popp, Bernt (Author) , Reimand, Tiia (Author) , Riedhammer, Korbinian M. (Author) , Russo, Martina (Author) , Sadleir, Lynette G. (Author) , Saenz, Margarita (Author) , Schiff, Manuel (Author) , Schuler, Elisabeth (Author) , Syrbe, Steffen (Author) , Van der Ven, Amelie Theresa (Author) , Verloes, Alain (Author) , Willems, Marjolaine (Author) , Zweier, Christiane (Author) , Steindl, Katharina (Author) , Zweier, Markus (Author) , Rauch, Anita (Author) ,

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

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement by Haack, Tobias (Author) , Jackson, Christopher B. (Author) , Murayama, Kei (Author) , Kremer, Laura S. (Author) , Schaller, André (Author) , Kotzaeridou, Urania (Author) , Vries, Maaike C. de (Author) , Schottmann, Gudrun (Author) , Santra, Saikat (Author) , Büchner, Boriana (Author) , Wieland, Thomas (Author) , Graf, Elisabeth (Author) , Freisinger, Peter (Author) , Eggimann, Sandra (Author) , Ohtake, Akira (Author) , Okazaki, Yasushi (Author) , Kohda, Masakazu (Author) , Kishita, Yoshihito (Author) , Tokuzawa, Yoshimi (Author) , Sauer, Sascha (Author) , Memari, Yasin (Author) , Kolb‐Kokocinski, Anja (Author) , Durbin, Richard (Author) , Hasselmann, Oswald (Author) , Cremer, Kirsten (Author) , Albrecht, Beate (Author) , Wieczorek, Dagmar (Author) , Engels, Hartmut (Author) , Hahn, Dagmar (Author) , Zink, Alexander M. (Author) , Alston, Charlotte L. (Author) , Taylor, Robert W. (Author) , Rodenburg, Richard J. (Author) , Trollmann, Regina (Author) , Sperl, Wolfgang (Author) , Strom, Tim M. (Author) , Hoffmann, Georg F. (Author) , Mayr, Johannes A. (Author) , Meitinger, Thomas (Author) , Bolognini, Ramona (Author) , Schuelke, Markus (Author) , Nuoffer, Jean-Marc (Author) , Kölker, Stefan (Author) , Prokisch, Holger (Author) , Klopstock, Thomas (Author) ,

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

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed sotos syndrome? by Dikow, Nicola (Author) , Maas, Bianca (Author) , Gaspar, Harald (Author) , Kreiss‐Nachtsheim, Martina (Author) , Engels, Hartmut (Author) , Kuechler, Alma (Author) , Garbes, Lutz (Author) , Netzer, Christian (Author) , Neuhann, Teresa M. (Author) , Koehler, Udo (Author) , Casteels, Kristina (Author) , Devriendt, Koen (Author) , Janssen, Johannes W. G. (Author) , Jauch, Anna (Author) , Hinderhofer, Katrin (Author) , Moog, Ute (Author) ,

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

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association by Hilger, Alina Christine (Author) , Schramm, Charlotte (Author) , Pennimpede, Tracie (Author) , Wittler, Lars (Author) , Dworschak, Gabriel C. (Author) , Bartels, Enrika (Author) , Engels, Hartmut (Author) , Zink, Alexander M. (Author) , Degenhardt, Franziska (Author) , Müller, Annette M. (Author) , Schmiedeke, Eberhard (Author) , Grasshoff-Derr, Sabine (Author) , Märzheuser, Stefanie (Author) , Hosie, Stuart (Author) , Holland-Cunz, Stefan (Author) , Wijers, Charlotte HW (Author) , Marcelis, Carlo LM (Author) , van Rooij, Iris ALM (Author) , Hildebrandt, Friedhelm (Author) , Herrmann, Bernhard G. (Author) , Nöthen, Markus Maria (Author) , Ludwig, Michael (Author) , Reutter, Heiko (Author) , Draaken, Markus (Author) ,

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

Phenotypic spectrum associated with CASK loss-of-function mutations by Moog, Ute (Author) , Kutsche, Kerstin (Author) , Kortüm, Fanny (Author) , Chilian, Bettina (Author) , Bierhals, Tatjana (Author) , Apeshiotis, Neophytos (Author) , Balg, Stefanie (Author) , Chassaing, Nicolas (Author) , Coubes, Christine (Author) , Das, Soma (Author) , Engels, Hartmut (Author) , Esch, Hilde Van (Author) , Grasshoff, Ute (Author) , Heise, Marisol (Author) , Isidor, Bertrand (Author) , Jarvis, Joanna (Author) , Koehler, Udo (Author) , Martin, Thomas (Author) , Oehl-Jaschkowitz, Barbara (Author) , Ortibus, Els (Author) , Pilz, Daniela T. (Author) , Prabhakar, Prab (Author) , Rappold, Gudrun (Author) , Rau, Isabella (Author) , Rettenberger, Günther (Author) , Schlüter, Gregor (Author) , Scott, Richard H. (Author) , Shoukier, Moonef (Author) , Wohlleber, Eva (Author) , Zirn, Birgit (Author) , Dobyns, William B. (Author) , Uyanik, Gökhan (Author) ,

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

De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation by Schramm, Charlotte (Author) , Draaken, Markus (Author) , Bartels, Enrika (Author) , Boemers, Thomas M. (Author) , Schmiedeke, Eberhard (Author) , Grasshoff-Derr, Sabine (Author) , Märzheuser, Stefanie (Author) , Hosie, Stuart (Author) , Holland-Cunz, Stefan (Author) , Baudisch, Friederike (Author) , Priebe, Lutz (Author) , Hoffmann, Per (Author) , Zink, Alexander M. (Author) , Engels, Hartmut (Author) , Brockschmidt, Felix F. (Author) , Aretz, Stefan (Author) , Nöthen, Markus Maria (Author) , Ludwig, Michael (Author) , Reutter, Heiko (Author) ,

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

Phenotypic spectrum associated with CASK loss-of-function mutations by Moog, Ute (Author) , Kutsche, Kerstin (Author) , Kortüm, Fanny (Author) , Chilian, Bettina (Author) , Bierhals, Tatjana (Author) , Apeshiotis, Neophytos (Author) , Balg, Stefanie (Author) , Chassaing, Nicolas (Author) , Coubes, Christine (Author) , Das, Soma (Author) , Engels, Hartmut (Author) , Esch, Hilde Van (Author) , Grasshoff, Ute (Author) , Heise, Marisol (Author) , Isidor, Bertrand (Author) , Jarvis, Joanna (Author) , Koehler, Udo (Author) , Martin, Thomas (Author) , Oehl-Jaschkowitz, Barbara (Author) , Ortibus, Els (Author) , Pilz, Daniela T. (Author) , Prabhakar, Prab (Author) , Rappold, Gudrun (Author) , Rau, Isabella (Author) , Rettenberger, Günther (Author) , Schlüter, Gregor (Author) , Scott, Richard H. (Author) , Shoukier, Moonef (Author) , Wohlleber, Eva (Author) , Zirn, Birgit (Author) , Dobyns, William B. (Author) , Uyanik, Gökhan (Author) ,

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation by Berkel, Simone (Author) , Marshall, Christian R. (Author) , Weiß, Birgit (Author) , Howe, Jennifer (Author) , Röth, Ralph (Author) , Moog, Ute (Author) , Endris, Volker (Author) , Roberts, Wendy (Author) , Szatmari, Peter (Author) , Pinto, Dalila (Author) , Bonin, Michael (Author) , Riess, Angelika (Author) , Engels, Hartmut (Author) , Sprengel, Rolf (Author) , Scherer, Stephen W. (Author) , Rappold, Gudrun (Author) ,