Претрага

Резултати

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)

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)

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.;

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.

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

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

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;

250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1 [2002]

Savic, Dusanka Lj ; Rakocevic-Stojanovic, Vidosava M; Keckarevic, Dusan P; Culjkovic, Biljana; Stojkovic, O; Mladenovic, Jelena M; Todorovic, Slobodanka; Apostolski, Slobodan A; Romac, Stanka P

Pathogenic validation of unique germline intronic variants ofRB1 in retinoblastoma patients using minigenes (✓) [2007]

Gámez-Pozo, Angelo; Palacios, Itziar; Kontić, Milica ; Menéndez, Ibis; Camino, Isabel; García-Miguel, Purificación; Abelairas, José; Pestaña, Ángel; Alonso, Javier

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.;