학술논문
'학술논문'
에서 검색결과 136건 | 목록
30~40
Periodical
Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; van de Warrenburg, Bart; Schöls, Ludger; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven; Matalonga, Leslie; Graessner, Holm; Synofzik, Matthis
European Journal of Human Genetics: EJHG; 20210101, Issue: Preprints p1-4, 4p
Academic Journal
Steyaert, Wouter; Laurie, Steven; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna; Brookes, Anthony; Brunner, Han; Graessner, Holm; Riess, Olaf; Lohmann, Katja; de Voer, Richarda; Topf, Ana; Vissers, Lisenka; Beltran, Sergi; Hoischen, Alexander
Academic Journal
Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Reinhard, Carola; Gómez-Andrés, David; Desaphy, Jean-François; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Riess, Olaf; Yaou, Rabah Ben; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisèle
Orphanet Journal of Rare Diseases. March 22, 2021, Vol. 16 Issue 1
Periodical
Matalonga, Leslie; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez-Jurado, Luis; Riess, Olaf; Gut, Ivo; van Ommen, Gert-Jan; Lochmüller, Hanns; Beltran, Sergi; Renieri, Alessandra; Dursun, Ali; Matilla-Duenas, Antoni; Cormand, Bru; Rivolta, Carlo; Ayuso, Carmen; Espinós, Carmen; Scerri, Christian; Yalnizoglu, Dilek; Soler, Doriette; Morava, Eva; Barbetti, Fabrizio; Forzano, Francesca; Mari, Francesca; Muntoni, Francesco; Tort, Frederic; Houlden, Henry James; Tejada, Maria-Isabel; Senderek, Jan; Benitez, Javier; De La Calle, Javier Corral; Serra, Jordi; Millán, José Ma; Segovia, Jose; Gimeno Blanes, Juan Ramon; Armstrong, Judith; Ozgul, Koksal; Vilarinho, Laura; Montoliu, Lluis; Posada, Manuel; Mencarelli, Maria Antonietta; Mora, Marina; Bianchi, Paola; Seeman, Pavel; Elliott, Perry M.; Ferlini, Alessandra; Brice, Alexis; Wirth, Brunhilde; Muntoni, Francesco; Hanna, Mike; Tabrizi, Sarah; Klockgether, Thomas; Timmerman, Vincent; Straub, Volker; Kurul, Semra Hiz; Oktay, Yavuz; Gungor, Serdal; Yaramis, Ahmet; Yis, Uluc; Macaya, Alfons; Ribes, Antonia; Pujol, Aurora; Lázaro, Conxi; Grinberg, Daniel; Tizzano, Eduardo; Cardellach, Francesc; Palau, Francesc; Milà, Montse; Gallano, Pia; Artuch, Rafael; MartiSeves, Ramon; Villanueva, Gonzalo; Vidal, Silvia; Garrabou, Gloria; Balcells, Susanna; Urreizti, Roser; López, Estrella; Cuscó, Ivon; Valenzuela, Irene; Sabater, Maria
The Journal of Molecular Diagnostics; September 2020, Vol. 22 Issue: 9 p1205-1215, 11p
Periodical
Oktay, Yavuz; Güngör, Serdal; Zeltner, Lena; Wiethoff, Sarah; Schöls, Ludger; Sonmezler, Ece; Yilmaz, Elmasnur; Munro, Benjamin; Bender, Benjamin; Kernstock, Christoph; Kaemereit, Sofie; Liepelt, Inga; Töpf, Ana; Yis, Uluc; Laurie, Steven; Yaramis, Ahmet; Zuchner, Stephan; Hiz, Semra; Lochmüller, Hanns; Schüle, Rebecca; Horvath, Rita
Journal of Neuromuscular Diseases; June 2020, Vol. 7 Issue: 3 p301-308, 8p
Periodical
Töpf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Güngör, Serdal; Lochmüller, Hanns; Hiz, Semra; Horvath, Rita
European Journal of Human Genetics: EJHG; March 2020, Vol. 28 Issue: 3 p383-387, 5p
Periodical
Balaraju, Sunitha; Töpf, Ana; McMacken, Grace; Kumar, Veeramani Preethish; Pechmann, Astrid; Roper, Helen; Vengalil, Seena; Polavarapu, Kiran; Nashi, Saraswati; Mahajan, Niranjan Prakash; Barbosa, Ines A.; Deshpande, Charu; Taylor, Robert W.; Cossins, Judith; Beeson, David; Laurie, Steven; Kirschner, Janbernd; Horvath, Rita; McFarland, Robert; Nalini, Atchayaram; Lochmüller, Hanns
European Journal of Human Genetics: EJHG; March 2020, Vol. 28 Issue: 3 p373-377, 5p
Periodical
Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schüle, Rebecca; Synofzik, Matthis; Töpf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; ’t Hoen, Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisèle; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; Swertz, Morris; Spalding, Dylan; Hoischen, Alexander; Beltran, Sergi; Graessner, Holm
European Journal of Human Genetics: EJHG; September 2021, Vol. 29 Issue: 9 p1459-1461, 3p
Academic Journal
Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Rheinard, Carola; Gómez-Andrés, David; Desaphy, Jean-François; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Riess, Olaf; Yaou, Rabah Ben; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisèle
Orphanet Journal of Rare Diseases. August 12, 2020, Vol. 15 Issue 1
Academic Journal
Kurul, Semra Hiz; Oktay, Yavuz; Topf, Ana; Szabo, Nora Zs; Gungor, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, Ipek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Ozgor, Bilge; Lochmuller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K.; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Muller, Juliane S.; Hathazi, Denisa; Chinnery, Patrick F.; Laurie, Steven; Beltran, Sergi; Lochmueller, Hanns; Horvath, Rita; Broad Ctr Mendelian Genomics
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[AR] Laurie, Steven
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