المؤلفون: Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin^{Aff3, Aff4}, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi^{Aff8, Aff9}, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea^{Aff19, Aff20}, Steinlin, Maja, Kuster, Alice, Mercier, Sandra^{Aff22, Aff23}, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B.^{Aff36, Aff37}, Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo^{Aff8, Aff9}, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G.^{Aff2, IDs41467022300151_cor57}, Taylor, J. Paul^{Aff1, Aff38, IDs41467022300151_cor58}

المصدر: Nature Communications. 13(1)

المؤلفون: Adoukonou, Thierry, Aryani, Omid, Barisic, Nina, Bashiri, Fahad, Bastaki, Laila, Benitto, Afaf, Omran, Tawfeg Ben, Bernert, Guenther, Bertini, Enrico, Borde, Patricia, Born, Peter, Boustani, Rose-Mary, Butoianu, Nina, Castiglioni, Claudia, Catibusic, Feriha, Chan, Sophelia, Chien, Yin Hsiu, Christodoulou, Kyproula, Dejsuphong, Donniphat, Farrar, Michelle, Filip, Duma, Goemans, Nathalie, Guinhouya, Kokou, Haberlova, Jana, Hadzsiev, Kinga, Hovhannesyan, Kristine, Isohanni, Pirjo, Radovic, Nelica Ivanovic, Jacquier, David, Jalloh, Alusine, Jedrzejowska, Maria, Kandawasvika, Gwen, Kaputu, Celestin, Kawatu, Nfwama, Kernohan, Kristin, Kirschner, Jan, Klink, Barbara, Kodsy, Sherry, Kouame-Assouan, Ange-Eric, Kravljanac, Ruzica, Kreile, Madara, Litvinenko, Ivan, McMillan, Hugh, Mesa, Sandra, Mohamed, Inaam, Kanzoska, Liljana Muaremoska, Nevo, Yoram, Nguefack, Seraphin, Nkole, Kafula, O'Grady, Gina, O'Rourke, Declan, Oskoui, Maryam, Piazzon, Flavia, Poddighe, Dimitri, Prasauskiene, Audrone, Prieto, Juan, Rasmussen, Magnhild, Razafindrasata, Santara, Saha, Narayan, Saito, Kayoko, Sakadi, Foksouna, Sangare, Modibo, Schroth, Mary, Shalkevich, Leanid, Shatillo, Andriy, Suthar, Renu, Szabo, Lena, Tatishvili, Nana, Tazir, Meriem, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Mar, van der Pol, Ludo, Vazquez, Gabriel, Vlodavets, Dimitry, Wanigasinghe, Jithangi, Wilmshurst, Jo, Xiong, Hui, Zafeiriou, Dimitrios, Zamba, Eleni, Dangouloff, Tamara, Vrščaj, Eva, Servais, Laurent, Osredkar, Damjan

المصدر: In Neuromuscular Disorders June 2021 31(6):574-582

المؤلفون: Wood, Libby^Aff1, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Díaz-Manera, Jordi, Dogan, Celine, el Sherif, Rasha, Fossati, Barbara, Graham, Caroline, Hilbert, James, Kastreva, Kristinia, Kimura, En, Korngut, Lawrence, Kostera-Pruszczyk, Anna, Lindberg, Christopher, Lindvall, Bjorn, Luebbe, Elizabeth, Lusakowska, Anna, Mazanec, Radim, Meola, Giovani, Orlando, Liannna, Takahashi, Masanori P., Peric, Stojan, Puymirat, Jack, Rakocevic-Stojanovic, Vidosava, Rodrigues, Miriam, Roxburgh, Richard, Schoser, Benedikt, Segovia, Sonia, Shatillo, Andriy, Thiele, Simone, Tournev, Ivailo, van Engelen, Baziel, Vohanka, Stanislav, Lochmüller, Hanns^{Aff27, Aff28}

المصدر: Orphanet Journal of Rare Diseases. 14(1)

المؤلفون: Wood, Libby^Aff1, Bassez, Guillaume^Aff2, Bleyenheuft, Corinne^Aff3, Campbell, Craig^Aff4, Cossette, Louise^Aff5, Jimenez-Moreno, Aura Cecilia^Aff1, Dai, Yi^Aff6, Dawkins, Hugh^Aff7, Manera, Jorge Alberto Diaz^Aff8, Dogan, Celine^Aff2, el Sherif, Rasha^Aff9, Fossati, Barbara^Aff10, Graham, Caroline^Aff7, Hilbert, James^Aff11, Kastreva, Kristinia^Aff12, Kimura, En^Aff13, Korngut, Lawrence^Aff14, Kostera-Pruszczyk, Anna^Aff15, Lindberg, Christopher^Aff16, Lindvall, Bjorn^Aff16, Luebbe, Elizabeth^Aff11, Lusakowska, Anna^Aff15, Mazanec, Radim^Aff17, Meola, Giovani^Aff10, Orlando, Liannna^Aff18, Takahashi, Masanori P.^Aff19, Peric, Stojan^Aff20, Puymirat, Jack^Aff5, Rakocevic-Stojanovic, Vidosava^Aff20, Rodrigues, Miriam^Aff21, Roxburgh, Richard^Aff21, Schoser, Benedikt^Aff22, Segovia, Sonia^Aff23, Shatillo, Andriy^Aff24, Thiele, Simone^Aff22, Tournev, Ivailo^Aff12, van Engelen, Baziel^Aff25, Vohanka, Stanislav^Aff26, Lochmüller, Hanns^{Aff27, Aff28}

المصدر: Orphanet Journal of Rare Diseases. 13(1)

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المؤلفون: Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., England, Eleina M., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Akay, Ela, Alonso-Pérez, Jorge, Baets, Jonathan, Barisic, Nina, Bastian, Alexandra, Borell, Sabine, Chamova, Teodora, Claeys, Kristl, Colomer, Jaume, Coppens, Sandra, Deconinck, Nicolas, de Ridder, Willem, Díaz-Manera, Jordi, Domínguez-González, Cristina, Duncan, Alexis, Durmus, Hacer, Fahmy, Nagia A., Farrugia, Maria Elena, Fernández-Torrón, Roberto, Gonzalez- Quereda, Lidia, Haberlova, Jana, von der Hagen, Maja, Hahn, Andreas, Jakovčević, Antonia, Jerico Pascual, Ivonne, Kapetanovic, Solange, Kenina, Viktorija, Kirschner, Janbernd, Klein, Andrea, Kölbel, Heike, Kostera-Pruszczyk, Anna, Kulshrestha, Richa, Lähdetie, Jaana, Layegh, Mahsa, Longman, Cheryl, López de Munain, Adolfo, Loscher, Wolfgang, Lusakowska, Anna, Maddison, Paul, Magot, Armelle, Majumdar, Anirban, Martí, Pilar, Martínez Arroyo, Amaia, Mazanec, Radim, Mercier, Sandra, Mongini, Tiziana, Muelas, Nuria, Nascimento, Andrés, Nafissi, Shahriar, Omidi, Shirin, Ortez, Carlos, Paquay, Stéphanie, Pereon, Yann, Perić, Stojan, Ponzalino, Valentina, Rakočević Stojanović, Vidosava, Remiche, Gauthier, Rodríguez Sainz, Aida, Rudnik, Sabine, Sanchez Albisua, Iciar, Santos, Manuela, Schara, Ulrike, Shatillo, Andriy, Sertić, Jadranka, Stephani, Ulrich, Strang- Karlsson, Sonja, Sznajer, Yves, Tanev, Ani, Tournev, Ivailo, Van den Bergh, Peter, Van Parijs, Vinciane, Vílchez, Juan, Vill, Katharina, Vissing, John, Wallgren-Pettersson, Carina, Wanschitz, Julia, Willis, Tracey, Witting, Nanna, Zulaica, Miren, Straub, Volker

مصطلحات موضوعية: genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, targeted exome analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::4a85b80be31dae2a1102fe599b22f36b
https://www.bib.irb.hr/1248369

المؤلفون: Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura, Dai, Yi, Dawkins, Hugh, Manera, Jorge, Celine Dogan, Sherif, Rasha El, Fossati, Barbara, Graham, Caroline, Hilbert, James, Kristinia Kastreva, Kimura, En, Korngut, Lawrence, Kostera-Pruszczyk, Anna, Lindberg, Christopher, Lindvall, Bjorn, Luebbe, Elizabeth, Lusakowska, Anna, Mazanec, Radim, Giovani Meola, Liannna Orlando, Takahashi, Masanori, Peric, Stojan, Puymirat, Jack, Rakocevic-Stojanovic, Vidosava, Rodrigues, Miriam, Roxburgh, Richard, Schoser, Benedikt, Segovia, Sonia, Shatillo, Andriy, Thiele, Simone, Tournev, Ivailo, Baziel Van Engelen, Vohanka, Stanislav, LochmĂźller, Hanns

مصطلحات موضوعية: InformationSystems_INFORMATIONSYSTEMSAPPLICATIONS, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, ComputingMilieux_LEGALASPECTSOFCOMPUTING, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::750c9a663b02e92c79e5de5470d26e94

المؤلفون: Bladen, Catherine, Salgado, David, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna, 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, Jan, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Jan, 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, Lochmuller, Hanns, Foncuberta, Maria E., Walter, Maggie C., Karaduman, A. Ayşe, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Flanigan, Kevin M.

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuropaediatrics, Garrahan National Paediatric Hospital, Centre for Comparative Genomics, Murdoch University, Department of Biological and Environmental Engineering, Cornell University [New York], Department of Embryology [Warsaw], Institute of Zoology [Warsaw], Faculty of Biology [Warsaw], University of Warsaw (UW)-University of Warsaw (UW)-Faculty of Biology [Warsaw], University of Warsaw (UW)-University of Warsaw (UW), Medicina Pediátrica y del Desarrollo, Instituto de Investigación en Enfermedades Raras (IIER)-Instituto de Salud Carlos III [Madrid] (ISC), Department of Neurology, Human Genetics, Newcastle University [Newcastle], Çocuk Sağlığı ve Hastalıkları, Unión Europea. Comisión Europea. 6 Programa Marco, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III [Madrid] (ISC)-Instituto de Investigación en Enfermedades Raras (IIER)

المصدر: Human Mutation
Human Mutation, Wiley, 2015, 36 (4), pp.395-402. ⟨10.1002/humu.22758⟩
Human mutation, vol. 36, no. 4, pp. 395-402
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; ... (2015). The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Human mutation, 36(4), pp. 395-402. Wiley-Blackwell 10.1002/humu.22758 <http://dx.doi.org/10.1002/humu.22758>
Paediatrics Publications
Human Mutation, 36(4), 395-402
Human Mutation, 2015, 36 (4), pp.395-402. ⟨10.1002/humu.22758⟩

مصطلحات موضوعية: Duchenne muscular dystrophy, Databases, Genetic, Dystrophin/genetics, Humans, Muscular Dystrophy, Duchenne/genetics, Mutation, Registries, DMD, TREAT-NMD, rare disease registries, Nonsense mutation, 610 Medicine & health, Biology, ta3111, Eteplirsen, Dystrophin, Databases, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, medicine, Missense mutation, Genetics (clinical), 030304 developmental biology, 0303 health sciences, ta1184, Point mutation, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Rare disease registries, Exon skipping, Stop codon, 3. Good health, Muscular Dystrophy, Duchenne, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], 030217 neurology & neurosurgery

وصف الملف: application/pdf; text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96189d3d8ffce6386eb116f714ad246c
https://hdl.handle.net/1887/107191

المؤلفون: Bladen, Catherine L., Rafferty, Karen, Straub, Volker, Monges, Soledad, Moresco, Angelica, Dawkins, Hugh, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Barisic, 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, Sarmiento, Isis de la Caridad Guerrero, Ambrosini, Anna, Ceradini, Francesca, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Oliveira, Jorge, Santos, Rosario, Neagu, Elena, Butoianu, Niculina, Artemieva, Svetlana, Rasic, Vedrana Milic, Posada, Manuel, Palau, Francesc, Lindvall, Björn, Bloetzer, Clemens, Karaduman, Ayse, Topaloglu, 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, Beroud, Christophe, Lochmueller, Hanns

المصدر: Human Mutation. 34(11):1449-1457

مصطلحات موضوعية: Duchenne muscular dystrophy, DMD, rare disease, disease registries, TREAT-NMD

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-56435