Pretraga

Rezultati

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2 [2014]

Cottenie, Ellen; Kochanski, Andrzej; Jordanova, Albena; Bansagi, Boglarka; Zimon, Magdalena; Horga, Alejandro; Jaunmuktane, Zane; Saveri, Paola; Milić-Rašić, Vedrana ; Baets, Jonathan;

Bartsakoulia, Marina; Ploski, Rafal; Teterycz, Pawel; Nikolić, Miloš ; Quinlivan, Ros; Laura, Matilde; Sweeney, Mary G.; Taroni, Franco; Lunn, Michael P.; Moroni, Isabella; Gonzalez, Michael; Hanna, Michael G.; Bettencourt, Conceicao; Chabrol, Elodie; Franke, Andre; von Au, Katja; Schilhabel, Markus; Kabzińska, Dagmara; Hausmanowa-Petrusewicz, Irena; Brandner, Sebastian; Lim, Siew Choo; Song, Haiwei; Choi, Byung-Ok; Horvath, Rita; Chung, Ki-Wha; Zuchner, Stephan; Pareyson, Davide; Harms, Matthew; Reilly, Mary M.; Houlden, Henry;

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia [2010]

Vermeer, Sascha; Hoischen, Alexander; Meijer, Rowdy P.P.; Gilissen, Christian; Neveling, Kornelia; Wieskamp, Nienke; de, Brouwer Arjan; Koenig, Michel; Anheim, Mathieu; Assoum, Mirna;

Drouot, Nathalie; Todorovic, Slobodanka; Milić Rašić, Vedrana ; Lochmüller, Hanns; Stevanin, Giovanni; Goizet, Cyril; David, Albert; Durr, Alexandra; Brice, Alexis; Kremer, Berry; van, de Warrenburg Bart P.C.; Schijvenaars, Mascha M.V.A.P.; Heister, Angelien; Kwint, Michael; Arts, Peer; van, der Wijst Jenny; Veltman, Joris; Kamsteeg, Erik-Jan; Scheffer, Hans; Knoers, Nine;

The Genetic Landscape and Epidemiology of Phenylketonuria [2020]

Hillert, Alicia; Anikster, Yair; Belanger-Quintana, Amaya; Burlina, Alberto; Burton, Barbara K.; Carducci, Carla; Chiesa, Ana E.; Christodoulou, John; Đorđević, Maja; Desviat, Lourdes R.;

Eliyahu, Aviva; Evers, Roeland A. F.; Fajkusova, Lena; Feillet, Francois; Bonfim-Freitas, Pedro E.; Gizewska, Maria; Gundorova, Polina; Karall, Daniela; Kneller, Katya; Kutsev, Sergey, I; Leuzzi, Vincenzo; Levy, Harvey L.; Lichter-Konecki, Uta; Muntau, Ania C.; Namour, Fares; Oltarzewski, Mariusz; Paras, Andrea; Perez, Belen; Polak, Emil; Polyakov, Alexander, V; Porta, Francesco; Rohrbach, Marianne; Scholl-Burgi, Sabine; Specola, Norma; Stojiljković, Maja ; Shen, Nan; Santana-da Silva, Luiz C.; Skouma, Anastasia; van Spronsen, Francjan; Stoppioni, Vera; Thony, Beat; Trefz, Friedrich K.; Vockley, Jerry; Yu, Youngguo; Zschocke, Johannes; Hoffmann, Georg F.; Garbade, Sven F.; Blau, Nenad;

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects [2018]

Loges, Niki T; ...; Cuturilo, Goran; ...; (broj, koautora 27)

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability [2025]

Kroll-Hermi, Ariane; ...; Cuturilo, Goran; ...; (broj, koautora 89)

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome [2019]

Capri, Yline; Flex, Elisabetta; Krumbach, Oliver H.F.; Carpentieri, Giovanna; Cecchetti, Serena; Lißewski, Christina; Rezaei, Adariani Soheila; Schanze, Denny; Brinkmann, Julia; Piard, Juliette;

Pantaleoni, Francesca; Lepri, Francesca R.; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Kuechler, Alma; Bramswig, Nuria C.; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cédric; Kensah, George; Čuturilo, Goran ; Kazemein, Jasemi Neda S.; Dvorsky, Radovan; Monaghan, Kristin G.; Vincent, Lisa M.; Cavé, Hélène; Verloes, Alain; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin;

Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa [2010]

Langmann, Thomas; Di, Gioia Silvio Alessandro; Rau, Isabella; Stöhr, Heidi; Maksimović, Nela ; Corbo, Joseph C.; Renner, Agnes B.; Zrenner, Eberhart; Kumaramanickavel, Govindasamy; Karlstetter, Marcus;

Arsenijevic, Yvan; Weber, Bernhard H.F.; Gal, Andreas; Rivolta, Carlo;

Evidence that paternal expression of the epsilon-Sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia [2002]

Muller, B; Hedrich, Katja; Kock, Norman; Dragasevic, Natasa T; Svetel, Marina V ; Garrels, J; Landt, O; Nitschke, M; Pramstaller, Peter P; Reik, W;

Schwinger, E; Sperner, J; Ozelius, LJ; Kostic, Vladimir S; Klein, Christine;

Identification of a new disease gene causing Lafora progressive myoclonus epilepsy. [2003]

Chan, EM; Young, EJ; Ianzano, L; Munteanu-Oprea, I; Zhao, XC; Christopoulos, CC; Avanzini, G; Elia, M; Ackerley, CA; Jovic, Nebojsa J;

Bohlega, S; Andermann, E; Rouleau, GA; Delgado-Escueta, AV; Minassian, BA; Scherer, SW;

Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood [2018]

Ni, Guiyan; Moser, Gerhard; ...; Pejović-Milovančević, Milica M. ; ...; Wray, Naomi R.; Lee, Hong S.; (broj koautora 302)