학술논문
'학술논문'
에서 검색결과 34건 | 목록
1~10
Academic Journal
Lesmann, Hellen; Moosa, Shahida; Pantel, Tori; Rosnev, Stanislav; Hustinx, Alexander; Javanmardi, Behnam; Knaus, Alexej; Kamphans, Tom; Meiswinkel, Wolfgang; Li, Jing-Mei; Hagen, Merle ten; Caro, Pilar; Velmans, Clara; Höller, Matthias; Abdelrazek, Ibrahim; Elmakkawy, Gehad; Alaadin, Khoushoua; Coetzer, Kimberly Christine; Ebstein, Frédéric; Küry, Sebastian; Abdalla, Ebtesam; Elbracht, Miriam; Knopp, Cordula; Arlt, Annabelle; Graziano, Claudio; Artem, Borovikov; Uwineza, Annette; Marbach, Felix; Netzer, Christian; Jamra, Rami Abou; Nöthen, Markus; Lyon, Gholson; Krawitz, Peter; Hsieh, Tzung-Chien
In Genetics in Medicine Open 2023 1(1) Supplement
Academic Journal
Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F; Martinez-Agosto, Julian A; Palmer, Christina GS; Signer, Rebecca H; Undiagnosed Diseases Network; Andrews, Marisa V; Grange, Dorothy K; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiß, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P
Genetics in medicine : official journal of the American College of Medical Genetics. 23(8)
Academic Journal
Marbach, Felix; Elgizouli, Magdeldin; Rech, Megan; Beygo, Jasmin; Erger, Florian; Velmans, Clara; Stumpel, Constance T. R. M.; Stegmann, Alexander P. A.; Beck-Wödl, Stefanie; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Schaaf, Christian P.; Kuechler, Alma
Academic Journal
Marbach, Felix; Lipska‐Ziętkiewicz, Beata S.; Knurowska, Agata; Michaud, Vincent; Margot, Henri; Lespinasse, James; Tran Mau Them, Frédéric; Coubes, Christine; Park, Joohyun; Grosch, Sarah; Roggia, Cristiana; Grasshoff, Ute; Kalsner, Louisa; Denommé‐Pichon, Anne‐Sophie; Afenjar, Alexandra; Héron, Bénédicte; Keren, Boris; Caro, Pilar; Schaaf, Christian P.
American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2627-2636, 10p
Academic Journal
Hebach, Nils R.; Caro, Pilar; Martin‐Giacalone, Bailey A.; Lupo, Philip J.; Marbach, Felix; Choukair, Daniela; Schaaf, Christian Patrick
Academic Journal
Kampmeier, Antje; Leitao, Elsa; Parenti, Ilaria; Beygo, Jasmin; Depienne, Christel; Bramswig, Nuria C.; Hsieh, Tzung-Chien; Afenjar, Alexandra; Beck-Woedl, Stefanie; Grasshoff, Ute; Haack, Tobias B.; Bijlsma, Emilia K.; Ruivenkamp, Claudia; Lausberg, Eva; Elbracht, Miriam; Haanpaa, Maria K.; Koillinen, Hannele; Heinrich, Uwe; Rost, Imma; Jamra, Rami Abou; Popp, Denny; Koch-Hogrebe, Margarete; Rostasy, Kevin; Lopez-Gonzalez, Vanesa; Sanchez-Soler, Maria Jose; Macedo, Catarina; Schmetz, Ariane; Steinborn, Carmen; Weidensee, Sabine; Lesmann, Hellen; Marbach, Felix; Caro, Pilar; Schaaf, Christian P.; Krawitz, Peter; Wieczorek, Dagmar; Kaiser, Frank J.; Kuechler, Alma
Periodical
Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G.S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell’Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L.M.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiß, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P.
Genetics in Medicine; August 2021, Vol. 23 Issue: 8 p1465-1473, 9p
Periodical
Busley, Alexandra Viktoria; Gutiérrez-Gutiérrez, Óscar; Hammer, Elke; Koitka, Fabian; Mirzaiebadizi, Amin; Steinegger, Martin; Pape, Constantin; Böhmer, Linda; Schroeder, Henning; Kleinsorge, Mandy; Engler, Melanie; Cirstea, Ion Cristian; Gremer, Lothar; Willbold, Dieter; Altmüller, Janine; Marbach, Felix; Hasenfuss, Gerd; Zimmermann, Wolfram-Hubertus; Ahmadian, Mohammad Reza; Wollnik, Bernd; Cyganek, Lukas
Cell Reports; 20240101, Issue: Preprints
Academic Journal
Hebach, Nils; Caro, Pilar; Martin-Giacalone, Bailey; Lupo, Philip; Marbach, Felix; Choukair, Daniela; Schaaf, Christian
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