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A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica 分享 收藏
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators Sciascia, Savino; Roccatello, Dario; Salvatore, Marco; Carta, Claudio; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; Cutiongco-de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica 分享 收藏
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International Taruscio, Domenica; Salvatore, Marco; Lumaka, Aime; Carta, Claudio; Cellai, Laura L.; Ferrari, Gianluca; Sciascia, Savino; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel 分享 收藏
Characterization of Danube Swabian population samples on a high-resolution genome-wide basis Banfai, Zsolt; Koevesdi, Erzsebet; Suemegi, Katalin; Bueki, Gergely; Szabo, Andras; Magyari, Lili; adam, Valerian; Palos, Ferenc; Miseta, Attila; Kasler, Miklos; Melegh, Bela 分享 收藏
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia 扩展SPTAN1单等位基因变体相关疾病: 从癫痫性脑病到纯痉挛性截瘫和共济失调 Morsy, Heba; Benkirane, Mehdi; Cali, Elisa; Rocca, Clarissa; Zhelcheska, Kristina; Cipriani, Valentina; Galanaki, Evangelia; Maroofian, Reza; Efthymiou, Stephanie; Murphy, David; O'Driscoll, Mary; Suri, Mohnish; Banka, Siddharth; Clayton-Smith, Jill; Wright, Thomas; Redman, Melody; Bassetti, Jennifer A.; Nizon, Mathilde; Cogne, Benjamin; Abu Jamra, Rami; Bartolomaeus, Tobias; Heruth, Marion; Krey, Ilona; Gburek-Augustat, Janina; Wieczorek, Dagmar; Gattermann, Felix; Mcentagart, Meriel; Goldenberg, Alice; Guyant-Marechal, Lucie; Garcia-Moreno, Hector; Giunti, Paola; Chabrol, Brigitte; Bacrot, Severine; Buissonniere, Roger; Magry, Virginie; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Melegh, Bela; Szabo, Andras; Sumegi, Katalin; Cossee, Mireille; Ziff, Monica; Butterfield, Russell; Hunt, David; Bird-Lieberman, Georgina; Hanna, Michael; Koenig, Michel; Stankewich, Michael; Vandrovcova, Jana; Houlden, Henry 分享 收藏
Rare disease education in Europe and beyond: time to act 欧洲及其他地区的罕见疾病教育: 采取行动的时间 Tumiene, Birute; Peters, Harm; Melegh, Bela; Peterlin, Borut; Utkus, Algirdas; Fatkulina, Natalja; Pfliegler, Gyoergy; Graessner, Holm; Hermanns, Sanja; Scarpa, Maurizio; Blay, Jean-Yves; Ashton, Sharon; McKay, Lucy; Baynam, Gareth 分享 收藏
Genome-wide autosomal, mtDNA, and Y chromosome analysis of King Bela III of the Hungarian Arpad dynasty (vol 11, 19210, 2021) Wang, Chuan-Chao; Posth, Cosimo; Furtwaengler, Anja; Sumegi, Katalin; Banfai, Zsolt; Kasler, Miklos; Krause, Johannes; Melegh, Bela 分享 收藏
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Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bruno, Claudio; Panicucci, Chiara; Alavi, Afagh; Nafissi, Shahriar; Nilipour, Yalda; Zanoteli, Edmar; de Augusto Isihi, Lucas Michielon; Melegh, Bela; Hadzsiev, Kinga; Muelas, Nuria; Vilchez, Juan J.; Dourado, Mario Emilio; Kadem, Naz; Kutluk, Gultekin; Umair, Muhammad; Younus, Muhammad; Pegorano, Elena; Bello, Luca; Crawford, Thomas O.; Suarez-Calvet, Xavier; Topf, Ana; Guglieri, Michela; Marini-Bettolo, Chiara; Gallano, Pia; Straub, Volker; Diaz-Manera, Jordi 分享 收藏
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice Wilke, Carlo; Haas, Eva; Reetz, Kathrin; Faber, Jennifer; Garcia-Moreno, Hector; Santana, Magda M.; van de Warrenburg, Bart; Hengel, Holger; Lima, Manuela; Filla, Alessandro; Durr, Alexandra; Melegh, Bela; Masciullo, Marcella; Infante, Jon; Giunti, Paola; Neumann, Manuela; de Vries, Jeroen; de Almeida, Luis Pereira; Rakowicz, Maria; Jacobi, Heike; Schule, Rebecca; Kaeser, Stephan A.; Kuhle, Jens; Klockgether, Thomas; Schoels, Ludger; Barro, Christian; Huebener-Schmid, Jeannette; Synofzik, Matthis 分享 收藏
The Undiagnosed Diseases Network International: Five years and more! Taruscio, D.; Baynam, G.; Cederroth, H.; Groft, S. C.; Klee, E. W.; Kosaki, K.; Lasko, P.; Melegh, B.; Riess, O.; Salvatore, M.; Gahl, W. A. 分享 收藏
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia Diallo, Alhassane; Jacobi, Heike; Cook, Arron; Giunti, Paola; Parkinson, Michael H.; Labrum, Robyn; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Castaldo, Anna; Rakowicz, Maria; Rola, Rafal; Sulek, Anna; Schmitz-Huebsch, Tanja; Schoels, Ludger; Hengel, Holger; Baliko, Laszlo; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, Jose; van de Warrenburg, Bart P.; Timmann, Dagmar; Boesch, Sylvia; Nachbauer, Wolfgang; Pandolfo, Massimo; Schulz, Joerg B.; Bauer, Peter; Jun-Suk, Kang; Klockgether, Thomas; du Montcel, Sophie Tezenas 分享 收藏
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma Schrauwen, Isabelle; Melegh, Bela I.; Chakchouk, Imen; Acharya, Anushree; Nasir, Abdul; Poston, Alexis; Cornejo-Sanchez, Diana M.; Szabo, Zsolt; Karosi, Tamas; Bene, Judit; Melegh, Bela; Leal, Suzanne M. 分享 收藏
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe Sirchia, Fabio; Carrieri, Daniele; Dheensa, Sandi; Benjamin, Caroline; Kayserili, Hulya; Cordier, Christophe; van El, Carla G.; Turnpenny, Peter D.; Melegh, Bela; Mendes, Alvaro; Halbersma-Konings, Tanya F.; van Langen, Irene M.; Lucassen, Anneke M.; Clarke, Angus J.; Forzano, Francesca; Kelly, Susan E. 分享 收藏
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Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome Tripolszki, K.; Farkas, K.; Sulak, A.; Szolnoky, G.; Duga, B.; Melegh, B.; Knox, R. G.; Parker, V. E. R.; Semple, R. K.; Kemeny, L.; Szell, M.; Nagy, N. 分享 收藏
Initiating an undiagnosed diseases program in the Western Australian public health system Baynam, Gareth; Broley, Stephanie; Bauskis, Alicia; Pachter, Nicholas; McKenzie, Fiona; Townshend, Sharron; Slee, Jennie; Kiraly-Borri, Cathy; Vasudevan, Anand; Hawkins, Anne; Schofield, Lyn; Helmholz, Petra; Palmer, Richard; Kung, Stefanie; Walker, Caroline E.; Molster, Caron; Lewis, Barry; Mina, Kym; Beilby, John; Pathak, Gargi; Poulton, Cathryn; Groza, Tudor; Zankl, Andreas; Roscioli, Tony; Dinger, Marcel E.; Mattick, John S.; Gahl, William; Groft, Stephen; Tifft, Cynthia; Taruscio, Domenica; Lasko, Paul; Kosaki, Kenjiro; Wilhelm, Helene; Melegh, Bela; Carapetis, Jonathan; Jana, Sayanta; Chaney, Gervase; Johns, Allison; Owen, Peter Wynn; Daly, Frank; Weeramanthri, Tarun; Dawkins, Hugh; Goldblatt, Jack 分享 收藏
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