Search Results - Popp, Bernt

aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment by Schröter, Julian (Author) , Dattner, Tal (Author) , Hüllein, Jennifer (Author) , Jayme, Alejandra (Author) , Heuveline, Vincent (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Lenz, Dominic (Author) , Opladen, Thomas (Author) , Popp, Bernt (Author) , Schaaf, Christian P. (Author) , Staufner, Christian (Author) , Syrbe, Steffen (Author) , Uhrig, Sebastian (Author) , Hübschmann, Daniel (Author) , Brennenstuhl, Heiko (Author) ,

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

De novo missense variants in FBXO11 alter its protein expression and subcellular localization by Gregor, Anne (Author) , Meerbrei, Tanja (Author) , Gerstner, Thorsten (Author) , Toutain, Annick (Author) , Lynch, Sally Ann (Author) , Stals, Karen (Author) , Maxton, Caroline (Author) , Lemke, Johannes R. (Author) , Bernat, John A. (Author) , Bombei, Hannah M. (Author) , Foulds, Nicola (Author) , Hunt, David (Author) , Kuechler, Alma (Author) , Beygo, Jasmin (Author) , Stobe, Petra (Author) , Bouman, Arjan (Author) , Palomares-Bralo, Maria (Author) , Santos-Simarro, Fernando (Author) , Garcia-Minaur, Sixto (Author) , Pacio-Miguez, Marta (Author) , Popp, Bernt (Author) , Vasileiou, Georgia (Author) , Hebebrand, Moritz (Author) , Reis, Andre (Author) , Schuhmann, Sarah (Author) , Krumbiegel, Mandy (Author) , Brown, Natasha J. (Author) , Sparber, Peter (Author) , Melikyan, Lyusya (Author) , Bessonova, Liudmila (Author) , Cherevatova, Tatiana (Author) , Sharkov, Artem (Author) , Shcherbakova, Natalia (Author) , Dabir, Tabib (Author) , Kini, Usha (Author) , Schwaibold, Eva (Author) , Haack, Tobias B. (Author) , Bertoli, Marta (Author) , Hoffjan, Sabine (Author) , Falb, Ruth (Author) , Shinawi, Marwan (Author) , Sticht, Heinrich (Author) , Zweier, Christiane (Author) ,

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

Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases by Wopperer, Florian (Author) , Knaup, Karl X. (Author) , Stanzick, Kira J. (Author) , Schneider, Karen (Author) , Jobst-Schwan, Tilman (Author) , Ekici, Arif B. (Author) , Uebe, Steffen (Author) , Wenzel, Andrea (Author) , Schliep, Stefan (Author) , Schürfeld, Carsten (Author) , Seitz, Randolf (Author) , Bernhardt, Wanja (Author) , Gödel, Markus (Author) , Wiesener, Antje (Author) , Popp, Bernt (Author) , Stark, Klaus J. (Author) , Gröne, Hermann-Josef (Author) , Friedrich, Björn (Author) , Weiß, Martin (Author) , Basic-Jukic, Nikolina (Author) , Schiffer, Mario (Author) , Schröppel, Bernd (Author) , Huettel, Bruno (Author) , Beck, Bodo B. (Author) , Sayer, John A. (Author) , Ziegler, Christine (Author) , Büttner-Herold, Maike (Author) , Amann, Kerstin (Author) , Heid, Iris M. (Author) , Reis, André (Author) , Pasutto, Francesca (Author) , Wiesener, Michael S. (Author) ,

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

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies by Schröter, Julian (Author) , Popp, Bernt (Author) , Brennenstuhl, Heiko (Author) , Driedger, Jan Henje (Author) , Jestaedt, Leonie (Author) , Arélin, Maria (Author) , Gräfe, Daniel (Author) , Neuser, Sonja Anna (Author) , Parker, Michael (Author) , Lemke, Johannes (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Harting, Inga (Author) , Syrbe, Steffen (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

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

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene by Freunscht, Inga (Author) , Popp, Bernt (Author) , Blank, Rainer (Author) , Endele, Sabine (Author) , Moog, Ute (Author) , Petri, Holger (Author) , Prott, Eva-Christina (Author) , Reis, André (Author) , Rübo, Jochen (Author) , Zabel, Bernhard (Author) , Zenker, Martin (Author) , Hebebrand, Johannes (Author) , Wieczorek, Dagmar (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, Abstract, Volltext

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes by Endele, Sabine (Author) , Rosenberger, Georg (Author) , Geider, Kirsten (Author) , Popp, Bernt (Author) , Tamer, Ceyhun (Author) , Stefanova, Irina (Author) , Milh, Mathieu (Author) , Kortüm, Fanny (Author) , Fritsch, Angela (Author) , Pientka, Friederike K. (Author) , Hellenbroich, Yorck (Author) , Kalscheuer, Vera M. (Author) , Kohlhase, Jürgen (Author) , Moog, Ute (Author) , Rappold, Gudrun (Author) , Rauch, Anita (Author) , Ropers, Hans-Hilger (Author) , von Spiczak, Sarah (Author) , Tönnies, Holger (Author) , Villeneuve, Nathalie (Author) , Villard, Laurent (Author) , Zabel, Bernhard (Author) , Zenker, Martin (Author) , Laube, Bodo (Author) , Reis, André (Author) , Wieczorek, Dagmar (Author) , Van Maldergem, Lionel (Author) , Kutsche, Kerstin (Author) ,

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

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes