학술논문
'학술논문'
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1~10
Academic Journal
Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Brösse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; Bar‐Aluma, Bat El; Haberman, Yael; Szeinberg, Amir
Human Mutation; Jun2021, Vol. 42 Issue 6, p762-776, 15p
Periodical
Helman, 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; Brösse, 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, Geneviève; van der Knaap, Marjo S.; Vanderver, Adeline; Husain, Ralf A.
Genetics in Medicine; December 2021, Vol. 23 Issue: 12 p2352-2359, 8p
Academic Journal
Itai, Toshiyuki; Hamanaka, Kohei; Sasaki, Kazunori; Wagner, Matias; Kotzaeridou, Urania; Brösse, Ines; Ries, Markus; Kobayashi, Yu; Tohyama, Jun; Kato, Mitsuhiro; Ong, Winnie P.; Chew, Hui B.; Rethanavelu, Kavitha; Ranza, Emmanuelle; Blanc, Xavier; Uchiyama, Yuri; Tsuchida, Naomi; Fujita, Atsushi; Azuma, Yoshiteru; Koshimizu, Eriko
Human Mutation; Jan2021, Vol. 42 Issue 1, p66-76, 11p
Periodical
Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E.H.; Volker-Touw, Catharina M.L.; Gassen, Koen L.I. van; Binsbergen, Ellen van; Pfundt, Rolph; Gardeitchik, Thatjana; Vries, Bert B.A. de; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Küry, Sébastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, André; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W.
Genetics in Medicine; June 2021, Vol. 23 Issue: 6 p1028-1040, 13p
Academic Journal
Saffari, Afshin; Brösse, Ines; Wiemer-Kruel, Adelheid; Wilken, Bernd; Kreuzaler, Paula; Hahn, Andreas; Bernhard, Matthias; van Tilburg, Cornelis; Hoffmann, Georg Friedrich; Gorenflo, Matthias; Hethey, Sven; Kaiser, Olaf; Kölker, Stefan; Wagner, Robert; Witt, Olaf; Merkenschlager, Andreas; Möckel, Andreas; Roser, Timo; Schlump, Jan-Ulrich; Serfling, Antje
Academic Journal
Saffari, Afshin; Brösse, Ines; Wiemer-Kruel, Adelheid; Wilken, Bernd; Kreuzaler, Paula; Hahn, Andreas; Bernhard, Matthias K.; van Tilburg, Cornelis M.; Hoffmann, Georg F.; Gorenflo, Matthias; Hethey, Sven; Kaiser, Olaf; Kölker, Stefan; Wagner, Robert; Witt, Olaf; Merkenschlager, Andreas; Möckel, Andreas; Roser, Timo; Schlump, Jan-Ulrich; Serfling, Antje; Spiegler, Juliane; Milde, Till; Ziegler, Andreas; Syrbe, Steffen
Orphanet Journal of Rare Diseases. May 3, 2019, Vol. 14 Issue 1
Academic Journal
Itai, Toshiyuki; Hamanaka, Kohei; Sasaki, Kazunori; Wagner, Matias; Kotzaeridou, Urania; Brosse, Ines; Ries, Markus; Kobayashi, Yu; Tohyama, Jun; Kato, Mitsuhiro; Ong, Winnie P.; Chew, Hui B.; Rethanavelu, Kavitha; Ranza, Emmanuelle; Blanc, Xavier; Uchiyama, Yuri; Tsuchida, Naomi; Fujita, Atsushi; Azuma, Yoshiteru; Koshimizu, Eriko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Takahashi, Hidehisa; Miyagi, Etsuko; Tsurusaki, Yoshinori; Doi, Hiroshi; Taguri, Masataka; Antonarakis, Stylianos E.; Nakashima, Mitsuko; Saitsu, Hirotomo; Miyatake, Satoko; Matsumoto, Naomichi
Academic Journal
Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Brosse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; El Bar-Aluma, Bat; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Tenaiji, Amal A.; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramakumaran, Vijayalakshmi S.; Pagnamenta, Alistair T.; Posey, Jennifer E.; Lupski, James R.; Tan, Wen-Hann; ElGhazali, Gehad; Herman, Isabella; Munoz, Tatiana; Repetto, Gabriela M.; Seitz, Angelika; Krumbiegel, Mandy; Poli, M. Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkur-Aya, Fowzan S.; Abou Jamra, Rami; Ben Zeev, Bruria; Ebrahimi-Fakhari, Darius; Popp, Bernt
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