학술논문
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'학술논문'
에서 검색결과 225건 | 목록
1~20
Academic Journal
Luisa Averdunk; Khalid Al‐Thihli; Harald Surowy; Hermann‐Josef Lüdecke; Matthias Drechsler; Gökhan Yigit; Lukasz Smorag; Bassam Al Hallak; Yun Li; Janine Altmüller; Tanja Guthoff; Michael Wallot; Peter Nürnberg; Bernd Wollnik; Rami Abou Jamra; Almundher Al‐Maawali; Dagmar Wieczorek
Clinical Genetics. 103:484-491
Academic Journal
Schmetz, Ariane; Lüdecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Solà, Marta; Colson, Cindy; Cuscó, Ivon; Denommé-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; Lesca, Gaetan; López-González, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl-Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, André; Sánchez-Soler, María José; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frédéric; Travessa, André; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent-Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar
Human Genetics. :1-14
Academic Journal
Luisa Averdunk; Heinrich Sticht; Harald Surowy; Hermann-Josef Lüdecke; Margarete Koch-Hogrebe; Hessa S. Alsaif; Kimia Kahrizi; Hamad Alzaidan; Bashayer S. Alawam; Mohamed Tohary; Cornelia Kraus; Sabine Endele; Erin Wadman; Julie D. Kaplan; Stephanie Efthymiou; Hossein Najmabadi; André Reis; Fowzan S. Alkuraya; Dagmar Wieczorek
J Mol Med (Berl)
Academic Journal
Sanchez, Elodie; Laplace-Builhé, Béryl; Mau-Them, Frédéric Tran; Richard, Eric; Goldenberg, Alice; Toler, Tomi; Guignard, Thomas; Gatinois, Vincent; Vincent, Marie; Blanchet, Catherine; Boland, Anne; Bihoreau, Marie Thérèse; Deleuze, Jean-François; Olaso, Robert; Nephi, Walton; Lüdecke, Hermann-Josef; Verheij, Joke; Moreau-Lenoir, Florence; Denoyelle, Françoise; Rivière, Jean-Baptiste; Laplanche, Jean-Louis; Willing, Marcia; Captier, Guillaume; Apparailly, Florence; Wieczorek, Dagmar; Collet, Corinne; Djouad, Farida; Geneviève, David
Genet Med
Academic Journal
Schmetz, Ariane; Schaper, Jörg; Thelen, Simon; Rana, Majeed; Klenzner, Thomas; Schaumann, Katharina; Beygo, Jasmin; Surowy, Harald; Lüdecke, Hermann-Josef; Wieczorek, Dagmar
Genes. March, 2023, Vol. 14 Issue 3
Academic Journal
Vasileiou, Georgia; Vergarajauregui, Silvia; Endele, Sabine; Popp, Bernt; Büttner, Christian; Ekici, Arif; Gérard, Marion; Bramswig, Nuria; Albrecht, Beate; Clayton-Smith, Jill; Morton, Jenny; Tomkins, Susan; Low, Karen; Weber, Astrid; Wenzel, Maren; Altmüller, Janine; Li, Yun; Wollnik, Bernd; Hoganson, George; Plona, Maria-Renée; Cho, Megan; Thiel, Christian; Lüdecke, Hermann-Josef; Strom, Tim; Calpena, Eduardo; Wilkie, Andrew; Wieczorek, Dagmar; Engel, Felix; Reis, André
Eur. J. Hum. Genet. 27, 805-806 (2019)
Am. J. Hum. Genet. 102, 468-479 (2018)
Vasileiou, G, Vergarajauregui, S, Endele, S, Popp, B, Büttner, C, Ekici, A B, Gerard, M, Bramswig, N C, Albrecht, B, Clayton-Smith, J, Morton, J, Tomkins, S, Low, K, Weber, A, Wenzel, M, Altmüller, J, Li, Y, Wollnik, B, Hoganson, G, Plona, M R, Cho, M T, Thiel, C T,Lüdecke , H J, Strom, T M, Calpena, E, Wilkie, A O M, Wieczorek, D, Engel, F B, Reis, A & Deciphering Developmental Disorders Study 2018, 'Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome', American Journal of Human Genetics, vol. 102, no. 3, pp. 468-479. https://doi.org/10.1016/j.ajhg.2018.01.014
Am. J. Hum. Genet. 102, 468-479 (2018)
Vasileiou, G, Vergarajauregui, S, Endele, S, Popp, B, Büttner, C, Ekici, A B, Gerard, M, Bramswig, N C, Albrecht, B, Clayton-Smith, J, Morton, J, Tomkins, S, Low, K, Weber, A, Wenzel, M, Altmüller, J, Li, Y, Wollnik, B, Hoganson, G, Plona, M R, Cho, M T, Thiel, C T,
Academic Journal
Reijnders, Margot RF; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline AC; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert BA; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia AL; Wieczorek, Dagmar; Study, The Deciphering Developmental Disorders; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs WE; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander PA; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid MA; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen RF; Mathijssen, Irene MJ; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew OM
Am J Hum Genet
American Journal of Human Genetics, 102, 6, pp. 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
The Deciphering Developmental Disorders Study, Kerr, B, Clayton-Smith, J, Chandler, K & Taylor, R L 2018, 'De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014
American Journal of Human Genetics, vol 102, iss 6
American Journal of Human Genetics, 102, 6, pp. 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
The Deciphering Developmental Disorders Study, Kerr, B, Clayton-Smith, J, Chandler, K & Taylor, R L 2018, 'De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014
American Journal of Human Genetics, vol 102, iss 6
Academic Journal
Lorenzo Sinibaldi; Valentina Parisi; Silvia Lanciotti; Paolo Fontana; Alma Kuechler; Genevieve Baujat; Barbara Torres; Judith Koetting; Alessandra Splendiani; Diana Postorivo; Jasmin Beygo; Francesco G. Garaci; Valerie Malan; Hermann‐Josef Lüdecke; Valentina Guida; Mandy Krumbiegel; Fortunato Lonardo; Antonio Novelli; Beate Albrecht; Chiara Perria; Gioacchino Scarano; Malte Spielmann; Annamaria M. Nardone; Agatino Battaglia; Francesco Brancati; Laura Bernardini
Clinical Genetics. 96:246-253
Academic Journal
Jachimowicz, Ron D. ; Beleggia, Filippo ; Isensee, Jörg ; Velpula, Bhagya Bhavana ; Goergens, Jonas ; Bustos, Matias A. ; Doll, Markus A. ; Shenoy, Anjana ; Checa-Rodriguez, Cintia ; Wiederstein, Janica Lea ; Baranes-Bachar, Keren ; Bartenhagen, Christoph ; Hertwig, Falk ; Teper, Nizan ; Nishi, Tomohiko ; Schmitt, Anna ; Distelmaier, Felix ; Lüdecke, Hermann-Josef ; Albrecht, Beate ; Krüger, Marcus ; Schumacher, Björn ; Geiger, Tamar ; Hoon, Dave S.B. ; Huertas, Pablo ; Fischer, Matthias ; Hucho, Tim ; Peifer, Martin ; Ziv, Yael ; Reinhardt, H. Christian ; Wieczorek, Dagmar ; Shiloh, Yosef
In Cell 24 January 2019 176(3):505-519
Academic Journal
Nuria C. Bramswig; Hermann-Josef Lüdecke; Fadi F. Hamdan; Janine Altmüller; Filippo Beleggia; Nursel H. Elcioglu; Catharine Freyer; Erica H. Gerkes; Yasemin Kendir Demirkol; Kelly G. Knupp; Alma Kuechler; Yun Li; Daniel H. Lowenstein; Jacques L. Michaud; Kristen Park; Alexander P.A. Stegmann; Hermine E. Veenstra-Knol; Thomas Wieland; Bernd Wollnik; Hartmut Engels; Tim M. Strom; Tjitske Kleefstra; Dagmar Wieczorek
Human Genetics, 136, 7, pp. 821-834
Hum. Genet. 136, 821-834 (2017)
Human Genetics
Hum. Genet. 136, 821-834 (2017)
Human Genetics
Academic Journal
Bramswig, Nuria; Bertoli-Avella, Aida; Albrecht, Beate; Al Aqeel, Aida; Alhashem, Amal; Al-Sannaa, Nouriya; Bah, Maissa; Bröhl, Katharina; Depienne, Christel; Dorison, Nathalie; Doummar, Diane; Ehmke, Nadja; Elbendary, Hasnaa; Gorokhova, Svetlana; Heron, Delphine; Horn, Denise; James, Kiely; Keren, Boris; Kuechler, Alma; Ismail, Samira; Issa, Mahmoud; Marey, Isabelle; Mayer, Michèle; Mcevoy-Venneri, Jennifer; Mégarbané, André; Mignot, Cyril; Mohamed, Sarar; Nava, Caroline; Philip, Nicole; Mignon-Ravix, Cecile; Rolfs, Arndt; Sadek, Abdelrahim Abdrabou; Segebrecht, Lara; Stanley, Valentina; Trautman, Camille; Valence, Stephanie; Villard, Laurent; Wieland, Thomas; Engels, Hartmut; Strom, Tim; Zaki, Maha; Gleeson, Joseph; Lüdecke, Hermann-Josef; Bauer, Peter; Wieczorek, Dagmar
Hum. Genet. 137, 753-768 (2018)
Academic Journal
Lessel, Davor; Gehbauer, Christina; Bramswig, Nuria C.; Schluth-Bolard, Caroline; Venkataramanappa, Sathish; van Gassen, Koen L. I.; Hempel, Maja; Haack, Tobias B.; Baresic, Anja; Genetti, Casie A.; Funari, Mariana F. A.; Lessel, Ivana; Kuhlmann, Leonie; Simon, Ruth; Liu, Pentao; Denecke, Jonas; Küchler, Alma; De Kruijff, Ineke; Shoukier, Moneef; Lek, Monkol; Mullen, Thomas; Lüdecke, Hermann-Josef; Lerario, Antonio M.; Kobbe, Robin; Krieger, Thorsten; Demeer, Benedicte; Lebrun, Marine; Keren, Boris; Nava, Caroline; Buratti, Julien; Afenjar, Alexandra; Shinawi, Marwan; Guillen Sacoto, Maria J.; Gauthier, Julie; Hamdan, Fadi F.; Laberge, Anne-Marie; Campeau, Philippe M.; Louie, Raymond J.; Cathey, Sara S.; Prinz, Immo; Jorge, Alexander A. L.; Terhal, Paulien A.; Lenhard, Boris; Wieczorek, Dagmar; Strom, Tim M.; Agrawal, Pankaj B.; Britsch, Stefan; Tolosa, Eva; Kubisch, Christian
Brain 141, 2299-2311 (2018)
Academic Journal
Dennert, Nicola; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Wohlleber, Eva; Albrecht, Beate; Ehret, Julia K.; Lüdecke, Hermann Josef; Suri, Mohnish; Carignani, Giulia; RENIERI, ALESSANDRA; Kukuk, Guido M.; Wieland, Thomas; Andrieux, Joris; Strom, Tim M.; Wieczorek, Dagmar; Dieux Coëslier, Anne; Zink, Alexander M.
Am. J. Med. Genet. A 173, 435-443 (2017)
Academic Journal
Beygo, Jasmin; Küchler, Alma; Gillessen-Kaesbach, Gabriele; Albrecht, Beate; Eckle, Jonas; Eggermann, Thomas; Gellhaus, Alexandra; Kanber, Deniz; Kordaß, Ulrike; Lüdecke, Hermann-Josef; Purmann, Sabine; Rossier, Eva; van de Nes, Johannes; Van Der Werf, Ilse M; Wenzel, Maren; Wieczorek, Dagmar; Horsthemke, Bernhard; Buiting, Karin
European journal of human genetics
Academic Journal
Redler, Silke; Strom, Tim M; Wieland, Thomas; Cremer, Kirsten; Engels, Hartmut; Distelmaier, Felix; Schaper, Jörg; Küchler, Alma; Lemke, Johannes R; Jeschke, Stephanie; Schreyer, Nicole; Sticht, Heinrich; Koch, Margarete; Lüdecke, Hermann-Josef; Wieczorek, Dagmar
Eur. J. Hum. Genet. 25, 889-893 (2017)
Academic Journal
Averdunk, Luisa; Sticht, Heinrich; Surowy, Harald; Lüdecke, Hermann‑Josef; Koch‑Hogrebe, Margarete; Alsaif, Hessa S.; Kahrizi, Kimia; Alzaidan, Hamad; Alawam, Bashayer S.; Tohary, Mohamed; Kraus, Cornelia; Endele, Sabine; Wadman, Erin; Kaplan, Julie D.; Efthymiou, Stephanie; Najmabadi, Hossein; Reis, André; Alkuraya, Fowzan S.; Wieczorek, Dagmar
Journal of Molecular Medicine. 99(12):1769-1770
Academic Journal
Bramswig, Nuria C.; Caluseriu, O.; Lüdecke, Hermann-Josef; Bolduc, F.V.; Noel, N.C.L.; Wieland, T.; Surowy, H.M.; Christen, H.-J.; Engels, H.; Strom, T.M.; Wieczorek, Dagmar
Hum. Genet. 136, 297-305 (2017)
Academic Journal
Fryssira, Helena; Psoni, Stavroula; Amenta, Styliani; Tsoutsou, Eirini; Sofocleous, Christalena; Manolakos, Emmanouil; Gavra, Maria; Lüdecke, Hermann-Josef; Czeschik, Johanna-Christina
Molecular Syndromology. 8:206-210
Academic Journal
Kuechler, Alma; Czeschik, Johanna; Graf, Elisabeth; Grasshoff, Ute; Hueffmeier, Ulrike; Busa, Tiffany; Beck-Woedl, Stefanie; Faivre, Laurence; Riviere, Jean-Baptiste; Bader, Ingrid; Koch, Johannes; Reis, André; Hehr, Ute; Rittinger, Olaf; Sperl, Wolfgang; Haack, Tobias b.; Wieland, Thomas; Engels, Hartmut; Prokisch, Holger; Strom, Tim M; Lüdecke, Hermann-Josef; Wieczorek, Dagmar
Eur. J. Hum. Genet. 25, 183-191 (2017)
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