Претрага

Резултати

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants [2012]

Kroos, Marian; Hoogeveen-Westerveld, Marianne; Michelakakis, Helen; Pomponio, Robert; Van, der Ploeg Ans; Halley, Dicky; Reuser, Arnold; Augoustides-Savvopoulou, Persephone; Ausems, Margreet; Llona, Jose Barcena;

Bautista, Lorite Juan; van, der Beek Nadine; Bonafe, Luisa; Cuk, Mario; D'Hooghe, Marc; Engelen, Baziel; Farouk, A.; Fumic, K.; Garcia-Delgado, E.; Herzog, Andreas; Hurst, J.; Jones, Simon; Kariminejad, M. H.; Küçükçongar, Aynur; Lissens, W.; Lund, Allan; Majoor-Krakauer, Danielle; Kumamoto, Shingo; Maravi, E.; Marie, Suely; Mengel, Eugen; Mavridou, Irene; Munteis, Olivas E.; Najmabadi, H.; Okumiya, Toshika; Perić, Stojan ; Paschke, Eduard; Plecko, Barbara; Robberecht, Wim; Serdaroglu, Piraye; Shboul, Mohammad; Tansek, Mojca Zerjav; Tarnutzer, A.; Stojanovic, Vidosava Rakocevic; Tylki-Szymanska, Anna; Venâncio, Maria; Verhoeven, Kristof;

Duplications in the DMD gene [2006]

White, SJ; Aartsma-Rus, A; Flanigan, KM; Weiss, RB; Kneppers, ALJ; Lalic, Tanja; Janson, AAM; Ginjaar, HB; Breuning, MH; den, Dunnen JT

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy [2017]

Wortmann, Saskia B; ...; Stojanovic, Vesna D ; ...; (broj, koautora 24)

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity [2012]

Daniel, Philip B; ...; Jesic, Milos M; ...; (broj, koautora 28)

A(1)ATVar: A Relational Database of Human SERPINA1 Gene Variants Leading to alpha(1)-Antitrypsin Deficiency and Application of the VariVis Software [2009]

Zaimidou, Sophia; van Baal, Sjozef; Smith, Timothy D.; Mitropoulos, Konstantinos; Ljujić, Mila ; Radojković, Dragica ; Cotton, Richard G.; Patrinos, George P.

Schimke immunoosseous dysplasia - suggestions of genetic diversity___ [2007]

Clewing, J. Marietta; Fryssira, Helen; Goodman, David; Smithson, Sarah F.; Sloan, Emily A.; Lou, Shu; Huang, Yan; Chow, Kunho; Luecke, Thomas; Alpay, Harika;

Andre, Jean-Luc; Asakura, Yumi; Biebuyck-Gouge, Nathalie; Bogdanović, Radovan; Bonneau, Dominique; Cancrini, Caterina; Cochat, Pierre; Cockfield, Sandra; Collard, Laure; Cordeiro, Isabel; Cormier-Daire, Valerie; Cransberg, Karlien; Cutka, Karel; Deschenes, Georges; Ehrich, Jochen H. H.; Frund, Stefan; Georgaki, Helen; Guillen-Navarro, Encarna; Hinkelmann, Barbara; Kanariou, Maria; Kasap, Belde; Kilic, Sara Sebnem; Lama, Guiliana; Lamfers, Petra; Loirat, Chantal; Majore, Silvia; Milford, David; Morin, Denis; Ozdemir, Nihal; Pontz, Bertram F.; Proesmans, Willem; Psoni, Stavroula; Reichenbach, Herbert; Reif, Silke; Rusu, Cristina; Saraiva, Jorge M.; Sakallioglu, Onur; Schmidt, Beate; Shoemaker, Lawrence; Sigaudy, Sabine; Smith, Graham; Sotsiou, Flora; Stajic, Natasa; Stein, Anja; Stray-Pedersen, Asbjorg; Taha, Doris; Taque, Sophie; Tizard, Jane; Tsimaratos, Michel; Wong, Newton A. C. S.; Boerkoel, Cornelius F.;

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome [2017]

Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia;

Anselmi, Massimiliano; Delle, Vigne Silvia; Sorge, Giovanni; Karaer, Kadri; Čuturilo, Goran ; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C.; Zampino, Giuseppe; De Luca, Alessandro; Cavé, Hélène; Zenker, Martin; Gelb, Bruce D.; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B.; Martinelli, Simone; Tartaglia, Marco;

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations [2015]

Bladen, Catherine L.; Salgado, David; Monges, Soledad; Foncuberta, Maria E.; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J.; Chamova, Teodora;

Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C.; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Kimura, En; Koeks, Zaïda; van, den Bergen Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Zimowski, Janusz; Santos, Rosário; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Jeannet, Pierre-Yves; Joncourt, Franziska; Díaz-Manera, Jordi; Gallardo, Eduard; Karaduman, A. Ayşe; Topaloğlu, Haluk; El, Sherif Rasha; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly L.; Bellgard, Matthew I.; Kirschner, Jan; Flanigan, Kevin M.; Straub, Volker; Bushby, Kate; Verschuuren, Jan; Aartsma-Rus, Annemieke; Béroud, Christophe; Lochmüller, Hanns;

Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families [2010]

Igreja, Susana; Chahal, Harvinder S.; King, Peter; Bolger, Graeme B.; Srirangalingam, Umasuthan; Guasti, Leonardo; Chapple, J. Paul; Trivellin, Giampaolo; Gueorguiev, Maria; Guegan, Katie;

Stals, Karen; Khoo, Bernard; Kumar, Ajith V.; Ellard, Sian; Grossman, Ashley B.; Korbonits, Márta;

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia [2013]

Bladen, Catherine L.; Rafferty, Karen; Straub, Volker; Monges, Soledad; Moresco, Angélica; Dawkins, Hugh; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Korngut, Lawrence;

Campbell, Craig; Dai, Yi; Barišić, Nina; Kos, Tea; Brabec, Petr; Rahbek, Jes; Lahdetie, Jaana; Tuffery-Giraud, Sylvie; Claustres, Mireille; Leturcq, France; Ben, Yaou Rabah; Walter, Maggie C.; Schreiber, Olivia; Karcagi, Veronika; Herczegfalvi, Agnes; Viswanathan, Venkatarman; Bayat, Farhad; de, la caridad Guerrero Sarmiento Isis; Ambrosini, Anna; Ceradini, Francesca; Kimura, En; van, den Bergen Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Oliveira, Jorge; Santos, Rosário; Neagu, Elena; Butoianu, Niculina; Artemieva, Svetlana; Rasic, Vedrana Milic; Posada, Manuel; Palau, Francesc; Lindvall, Björn; Bloetzer, Clemens; Karaduman, Ayşe; Topaloğlu, Haluk; Inal, Serap; Oflazer, Piraye; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly; Flanigan, Kevin M.; Salgado, David; von, Rekowski Brigitta; Lynn, Stephen; Heslop, Emma; Gainotti, Sabina; Taruscio, Domenica; Kirschner, Jan; Verschuuren, Jan; Bushby, Kate; Béroud, Christophe; Lochmüller, Hanns;