학술논문
'학술논문'
에서 검색결과 150건 | 목록
40~50
Academic Journal
Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K.-G.; Lorenzo, Damaris N.
Nature Genetics. 53(7):1006-1021
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Academic Journal
Li, Dong; Strong, Alanna; Shen, Kaitlyn M.; Cassiman, David; Van Dyck, Maria; Linhares, Natalia Duarte; Valadares, Eugenia Ribeiro; Wang, Tiancheng; Pena, Sergio D. J.; Jaeken, Jaak; Vergano, Samantha; Zackai, Elaine; Hing, Anne; Chow, Penny; Ganguly, Arupa; Scholz, Tasja; Bierhals, Tatjana; Philipp, Deindl; Hakonarson, Hakon; Bhoj, Elizabeth
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(4):637-644
Academic Journal
Begemann, Anaïs; Sticht, Heinrich; Begtrup, Amber; Vitobello, Antonio; Faivre, Laurence; Banka, Siddharth; Alhaddad, Bader; Asadollahi, Reza; Becker, Jessica; Bierhals, Tatjana; Brown, Kathleen E.; Bruel, Ange-Line; Brunet, Theresa; Carneiro, Maryline; Cremer, Kirsten; Day, Robert; Denommé-Pichon, Anne-Sophie; Dyment, Dave A.; Engels, Hartmut; Fisher, Rachel; Goh, Elaine S.; Hajianpour, M. J.; Haertel, Lucia Ribeiro Machado; Hauer, Nadine; Hempel, Maja; Herget, Theresia; Johannsen, Jessika; Kraus, Cornelia; Le Guyader, Gwenaël; Lesca, Gaetan; Mau-Them, Frédéric Tran; McDermott, John Henry; McWalter, Kirsty; Meyer, Pierre; Õunap, Katrin; Popp, Bernt; Reimand, Tiia; Riedhammer, Korbinian M.; Russo, Martina; Sadleir, Lynette G.; Saenz, Margarita; Schiff, Manuel; Schuler, Elisabeth; Syrbe, Steffen; Van der Ven, Amelie Theresa; Verloes, Alain; Willems, Marjolaine; Zweier, Christiane; Steindl, Katharina; Zweier, Markus; Rauch, Anita
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(3):543-554
Periodical
Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpeleg, Orly; Fattal, Aviva; Geneviève, David; Guillen Sacoto, Maria J; Guimier, Anne; Harris, David J; Hempel, Maja; Isidor, Bertrand; Jouan, Thibaud; Kuentz, Paul; Koshimizu, Eriko; Lichtenbelt, Klaske; Loik Ramey, Valerie; Maik, Miriam; Miyakate, Sakoto; Murakami, Yoshiko; Pasquier, Laurent; Pedro, Helio; Simone, Laurie; Sondergaard-Schatz, Krista; St-Onge, Judith; Thevenon, Julien; Valenzuela, Irene; Abou Jamra, Rami; van Gassen, Koen; van Haelst, Mieke M; van Koningsbruggen, Silvana; Verdura, Edgard; Whelan Habela, Christa; Zacher, Pia; Rivière, Jean-Baptiste; Thauvin-Robinet, Christel; Betschinger, Joerg; Faivre, Laurence
Journal of Medical Genetics (JMG); 2020, Vol. 57 Issue: 12 p808-819, 12p
Periodical
Johannsen, Jessika; Bierhals, Tatjana; Deindl, Philipp; Hecher, Laura; Hermann, Katharina; Hempel, Maja; Kloth, Katja; Denecke, Jonas
Journal of Pediatric Genetics; December 2019, Vol. 8 Issue: 4 p222-225, 4p
Academic Journal
Manivannan, Sathiya N.; Roovers, Jolien; Smal, Noor; Myers, Candace T.; Turkdogan, Dilsad; Roelens, Filip; Kanca, Oguz; Chung, Hyung-Lok; Scholz, Tasja; Hermann, Katharina; Bierhals, Tatjana; Caglayan, Hande S.; Stamberger, Hannah; Mefford, Heather; de Jonghe, Peter; Yamamoto, Shinya; Weckhuysen, Sarah; Bellen, Hugo J.; EuroEPINOMICS RES Consortium
Academic Journal
Andersen, Peter M.; Hempel, Maja; Santer, René; Nordström, Ulrika; Tsiakas, Konstantinos; Johannsen, Jessika; Volk, Alexander E; Bierhals, Tatjana; Zetterström, Per; Marklund, Stefan L
Academic Journal
Academic Journal
Wagner, Matias; Lévy, Jonathan; Jung-Klawitter, Sabine; Bakhtiari, Somayeh; Monteiro, Fabiola; Maroofian, Reza; Bierhals, Tatjana; Hempel, Maja; Elmaleh-Bergès, Monique; Kitajima, Joao P.; Kim, Chong A.; Salomao, Julia G.; Amor, David J.; Cooper, Monica S.; Perrin, Laurence; Pipiras, Eva; Neu, Axel; Doosti, Mohammad; Karimiani, Ehsan G.; Toosi, Mehran B.; Houlden, Henry; Jin, Sheng Chih; Si, Yue C.; Rodan, Lance H.; Venselaar, Hanka; Kruer, Michael C.; Kok, Fernando; Hoffmann, Georg F.; Strom, Tim M.; Wortmann, Saskia B.; Tabet, Anne-Claude; Opladen, Thomas
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(6):1061-1068
Academic Journal
Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin
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[AR] Bierhals, Tatjana
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