학술논문
'학술논문'
에서 검색결과 644건 | 목록
190~200
Periodical
Park, Joohyun; Colombo, Roberto; Schäferhoff, Karin; Janiri, Luigi; Grimmel, Mona; Sturm, Marc; Grasshoff, Ute; Dufke, Andreas; Haack, Tobias B.; Kehrer, Martin
Molecular Syndromology; July 2019, Vol. 10 Issue: 4 p195-201, 7p
Academic Journal
Charif, Majida; Nasca, Alessia; Thompson, Kyle; Gerber, Sylvie; Makowski, Christine; Mazaheri, Neda; Bris, Céline; Goudenège, David; Legati, Andrea; Maroofian, Reza; Shariati, Gholamreza; Lamantea, Eleonora; Hopton, Sila; Ardissone, Anna; Moroni, Isabella; Giannotta, Melania; Siegel, Corinna; Strom, Tim M.; Prokisch, Holger; Vignal-Clermont, Catherine; Derrien, Sabine; Zanlonghi, Xavier; Kaplan, Josseline; Hamel, Christian P.; Leruez, Stephanie; Procaccio, Vincent; Bonneau, Dominique; Reynier, Pascal; White, Frances E.; Hardy, Steven A.; Barbosa, Inês A.; Simpson, Michael A.; Vara, Roshni; Perdomo Trujillo, Yaumara; Galehdari, Hamind; Deshpande, Charu; Haack, Tobias B.; Rozet, Jean-Michel; Taylor, Robert W.; Ghezzi, Daniele; Amati-Bonneau, Patrizia; Lenaers, Guy
JAMA Neurology. Jan 01, 2018 75(1):105-113
Academic Journal
Weisschuh, Nicole; Marino, Valerio; Schaeferhoff, Karin; Richter, Paul; Park, Joohyun; Haack, Tobias B.; Dell'Orco, Daniele
Academic Journal
Heiman, Guy; Mendes, Marisa, I; Nicita, Francesco; Darbelli, Lama; Sherbini, Omar; Moore, Travis; Derksen, Alexa; Pizzino, Amy; Carrozzo, Rosalba; Torraco, Alessandra; Catteruccia, Michela; Aiello, Chiara; Goffrini, Paola; Figuccia, Sonia; Smith, Desiree E. C.; Hadzsiev, Kinga; Hahn, Andreas; Biskup, Saskia; Broesse, Ines; Kotzaeridou, Urania; Gauck, Darja; Grebe, Theresa A.; Elmslie, Frances; Stals, Karen; Gupta, Rajat; Bertini, Enrico; Thiffault, Isabelle; Taft, Ryan J.; Schiffmann, Raphael; Brandl, Ulrich; Haack, Tobias B.; Salomons, Gajja S.; Simons, Cas; Bernard, Genevieve; van der Knaap, Marjo S.; Vanderver, Adeline; Husain, Ralf A.
Academic Journal
Academic Journal
Academic Journal
Hengel, Holger; Hannan, Shabab B.; Dyack, Sarah; MacKay, Sara B.; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S.; Alzaidan, Hamad; Alsaif, Hessa S.; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R.; Gleeson, Joseph J.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y., V; Sherr, Elliott H.; Parks, Kendall C.; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A.; Pagnamenta, Alistair T.; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Riess, Angelika; Haack, Tobias B.; Naegele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schoels, Ludger; Care4Rare Canada Consortium; Genomics England Res Consortium
Academic Journal
Feichtinger, René G.; Mucha, Bettina E.; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D’Anjou, Guy; Nguyen, Thi Tuyet Mai; Buchert, Rebecca; Juenger, Hendrik; Freisinger, Peter; Baumeister, Sarah; Schoser, Benedikt; Ahting, Uwe; Keimer, Reinhard; Nguyen, Cam-Tu Emilie; Fabre, Paul; Gauthier, Julie; Miguet, Marguerite; Lopes, Fátima; AlHakeem, Afnan; AlHashem, Amal; Tabarki, Brahim; Kandaswamy, Krishna Kumar; Bauer, Peter; Steinbacher, Peter; Prokisch, Holger; Sturm, Marc; Strom, Tim M.; Ellezam, Benjamin; Mayr, Johannes A.; Schöls, Ludger; Michaud, Jacques L.; Campeau, Philippe M.; Haack, Tobias B.; Dumont, Nicolas A.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(11):2521-2531
Book
Thiels, Charlotte; Fleger, Martin; Huemer, Martina; Rodenburg, Richard J.; Vaz, Frederic M.; Houtkooper, Riekelt H.; Haack, Tobias B.; Prokisch, Holger; Feichtinger, René G.; Lücke, Thomas; Mayr, Johannes A.; Wortmann, Saskia B.
JIMD Reports, Volume 29; 2016, p89-93, 5p
Academic Journal
Habarou, Florence; Hamel, Yamina; Haack, Tobias B.; Feichtinger, René G.; Lebigot, Elise; Marquardt, Iris; Busiah, Kanetee; Laroche, Cécile; Madrange, Marine; Grisel, Coraline; Pontoizeau, Clément; Eisermann, Monika; Boutron, Audrey; Chrétien, Dominique; Chadefaux-Vekemans, Bernadette; Barouki, Robert; Bole-Feysot, Christine; Nitschke, Patrick; Goudin, Nicolas; Boddaert, Nathalie
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[AR] Haack, Tobias B.
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