Pretraga

Rezultati

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

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10 [2010]

Frank-Raue, Karin; Rybicki, Lisa A.; Erlic, Zoran; Schweizer, Heiko; Winter, Aurelia; Milos, Ioana; Toledo, Sergio P.A.; Toledo, Rodrigo A.; Tavares, Marcos R.; Alevizaki, Maria;

Mian, Caterina; Siggelkow, Heide; Hüfner, Michael; Wohllk, Nelson; Opocher, Giuseppe; Dvořáková, Šárka; Bendlova, Bela; Czetwertynska, Małgorzata; Skasko, Elżbieta; Barontini, Marta; Sanso, Gabriela; Vorländer, Christian; Maia, Ana Luiza; Patocs, Attila; Links, Thera P.; de, Groot Jan Willem; Kerstens, Michiel N.; Valk, Gerlof D.; Miehle, Konstanze; Musholt, Thomas J.; Biarnes, Josefina; Damjanović, Svetozar ; Muresan, Mihaela; Wüster, Christian; Fassnacht, Martin; Peczkowska, Mariola; Fauth, Christine; Golcher, Henriette; Walter, Martin A.; Pichl, Josef; Raue, Friedhelm; Eng, Charis; Neumann, Hartmut P.H.;

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease [2013]

Schmidts, Miriam; Frank, Valeska; Eisenberger, Tobias; al, Turki Saeed; Bizet, Albane A.; Antony, Dinu; Rix, Suzanne; Decker, Christian; Bachmann, Nadine; Bald, Martin;

Vinke, Tobias; Toenshoff, Burkhard; Di, Donato Natalia; Neuhann, Theresa; Hartley, Jane L.; Maher, Eamonn R.; Bogdanović, Radovan; Peco‐Antić, Amira; Mache, Christoph; Hurles, Matthew E.; Joksić, Ivana; Guć‐Šćekić, Marija; Rakobradović, Jelena ; Branković-Magić, Mirjana ; Bolz, Hanno J.; Pazour, Gregory J.; Beales, Philip L.; Scambler, Peter J.; Saunier, Sophie; Mitchison, Hannah M.; Bergmann, Carsten;

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;

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)

Rett networked database: An integrated clinical and genetic network of rett syndrome databases [2012]

Grillo, Elisa; ...; Djuric, Milena Lj; ...; (broj, koautora 26)

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)

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.;

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;