학술논문
'학술논문'
에서 검색결과 107건 | 목록
1~10
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Hurst, Anna C.E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Ehmke, Nadja; Cusmano-Ozog, Kristina; Koenig, Rainer; Holtgrewe, Manuel; Nur, Banu; Mihci, Ercan; Babcock, Holly; Gonzaga-Jauregui, Claudia; Overton, John D.; Xiao, Jing; Martinez, Ariel F.; Muenke, Maximilian; Balzer, Alexander; Jochim, Judith; El Choubassi, Naji; Fischer-Zirnsak, Björn; Huber, Céline; Kornak, Uwe; Elsea, Sarah H.; Cormier-Daire, Valérie; Ferreira, Carlos R.
In Bone April 2020 133
Academic Journal
Kopp, Johannes; Koch, Leonard A.; Lyubenova, Hristiana; Küchler, Oliver; Holtgrewe, Manuel; Ivanov, Andranik; Dubourg, Christele; Launay, Erika; Brachs, Sebastian; Mundlos, Stefan; Ehmke, Nadja; Seelow, Dominik; Fradin, Mélanie; Kornak, Uwe; Fischer-Zirnsak, Björn
Human Genetics. :1-12
Academic Journal
Kopp, Johannes; Koch, Leonard A.; Lyubenova, Hristiana; Kuechler, Oliver; Holtgrewe, Manuel; Ivanov, Andranik; Dubourg, Christele; Launay, Erika; Brachs, Sebastian; Mundlos, Stefan; Ehmke, Nadja; Seelow, Dominik; Fradin, Melanie; Kornak, Uwe; Fischer-Zirnsak, Bjoern
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant
Academic Journal
Schwartzmann, Sarina; Zhao, Max; Sczakiel, Henrike Lisa; Hildebrand, Gabriele; Ehmke, Nadja; Horn, Denise; Mensah, Martin A.; Boschann, Felix
Academic Journal
Fischer-Zirnsak, Björn; Segebrecht, Lara; Schubach, Max; Charles, Perrine; Alderman, Emily; Brown, Kathleen; Cadieux-Dion, Maxime; Cartwright, Tracy; Chen, Yanmin; Costin, Carrie; Fehr, Sarah; Fitzgerald, Keely M.; Fleming, Emily; Foss, Kimberly; Ha, Thoa; Hildebrand, Gabriele; Horn, Denise; Liu, Shuxi; Marco, Elysa J.; McDonald, Marie; McWalter, Kirsty; Race, Simone; Rush, Eric T.; Si, Yue; Saunders, Carol; Slavotinek, Anne; Stockler-Ipsiroglu, Sylvia; Telegrafi, Aida; Thiffault, Isabelle; Torti, Erin; Tsai, Anne Chun-hui; Wang, Xin; Zafar, Muhammad; Keren, Boris; Kornak, Uwe; Boerkoel, Cornelius F.; Mirzaa, Ghayda; Ehmke, Nadja
In The American Journal of Human Genetics 5 September 2019 105(3):631-639
Academic Journal
Sczakiel, Henrike L.; Zhao, Max; Wollert-Wulf, Brigitte; Danyel, Magdalena; Ehmke, Nadja; Stoltenburg, Corinna; Damseh, Nadirah; Al-Ashhab, Motee; Balci, Tugce B.; Osmond, Matthew; Andrade, Andrea; Schallner, Jens; Porrmann, Joseph; McDonald, Kimberly; Liao, Mingjuan; Oppermann, Henry; Platzer, Konrad; Dierksen, Nadine; Mojarrad, Majid; Eslahi, Atieh; Bakaeean, Behnaz; Calame, Daniel G.; Lupski, James R.; Firoozfar, Zahra; Seyedhassani, Seyed Mohammad; Mohammadi, Seyed Ahmad; Anwaar, Najwa; Rahman, Fatima; Seelow, Dominik; Janz, Martin; Horn, Denise; Maroofian, Reza; Boschann, Felix
European Journal of Human Genetics. 31(8):905-917
Academic Journal
Oheim, Ralf; Tsourdi, Elena; Seefried, Lothar; Beller, Gisela; Schubach, Max; Vettorazzi, Eik; Sturznickel, Julian; Rolvien, Tim; Ehmke, Nadja; Delsmann, Alena; Genest, Franca; Kruger, Ulrike; Zemojtel, Tomasz; Barvencik, Florian; Schinke, Thorsten; Jakob, Franz; Hofbauer, Lorenz C.; Mundlos, Stefan; Kornak, Uwe
Journal of Clinical Endocrinology & Metabolism. July 2022, Vol. 107 Issue 7, pe3048, 10 p.
Academic Journal
Körholz, Julia; Gabrielyan, Anastasia; Sczakiel, Henrike Lisa; Schulze, Livia; Rejzek, Manuela; Laass, Martin W; Leuchten, Nicolai; Tiebel, Oliver; Aust, Diana; Conrad, Karsten; Röber, Nadja; Jacobsen, Eva-Maria; Ehmke, Nadja; Berner, Reinhard; Lucas, Nadja; Lee-Kirsch, Minae A; Wiedemuth, Ralf; Roesler, Joachim; Roers, Axel; Amendt, Timm
Academic Journal
Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren; Wierzba, Jolanta; Strom, Tim M; Parenti, Ilaria; Kaiser, Frank J; Ehmke, Nadja; Schaaf, Christian P
Genetics in Medicine. 21(8)
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