Auflistung Universitätsbibliographie nach Autor "Dufke, Andreas"

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Auflistung Universitätsbibliographie nach Autor "Dufke, Andreas"

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  • Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
    Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A.; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B.; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A.; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G.; Mihci, Ercan; Moreira, Lilia M. A.; Ferreira, Viviane Borges; Horovitz, Dafne D. G.; da Rocha, Katia M.; Jezela-Stanek, Aleksandra; Brooks, Alice S.; Reutter, Heiko; Cohen, Julie S.; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A.; Di Donato, Nataliya; Deshpande, Charu; Vandersteen, Anthony; Lourenco, Charles Marques; Dufke, Andreas; Rossier, Eva; Andre, Gwenaelle; Baumer, Alessandra; Spencer, Careni; McGaughran, Julie; Franke, Lude; Veltman, Joris A.; De Vries, Bert B. A.; Schinzel, Albert; Fisher, Simon E.; Hoischen, Alexander; van Bon, Bregje W.; Kayserili, Hülya (2017)
  • Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations
    Hoeckner, M.; Spreiz, A.; Fruehmesser, A.; Tzschach, A.; Dufke, A.; Rittinger, O.; Kalscheuer, V.; Singer, S.; Erdel, M.; Fauth, C.; Grossmann, V.; Utermann, G.; Zschocke, J.; Kotzot, D. (2012)
  • Parental origin of deletions and duplications - about the necessity to check for cryptic inversions
    Liehr, Thomas; Schreyer, Isolde; Kuechler, Alma; Manolakos, Emmanouil; Singer, Sylke; Dufke, Andreas; Wilhelm, Kathleen; Jancuskova, Tereza; Cmejla, Radek; Othman, Moneeb A. K.; Al-Rikabi, Ahmed H.; Mrasek, Kristin; Ziegler, Monika; Kankel, Stefanie; Kreskowski, Katharina; Weise, Anja (2018)
  • Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
    Frints, Suzanna G. M.; Ozanturk, Aysegul; Rodriguez Criado, German; Grasshoff, Ute; de Hoon, Bas; Field, Michael; Manouvrier-Hanu, Sylvie; Hickey, Scott E.; Kammoun, Molka; Gripp, Karen W.; Bauer, Claudia; Schroeder, Christopher; Toutain, Annick; Mosher, Theresa Mihalic; Kelly, Benjamin J.; White, Peter; Dufke, Andreas; Rentmeester, Eveline; Moon, Sungjin; Koboldt, Daniel C.; van Roozendaal, Kees E. P.; Hu, Hao; Haas, Stefan A.; Ropers, Hans-Hilger; Murray, Lucinda; Haan, Eric; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Liebelt, Jan; Hobson, Lynne; De Rademaeker, Marjan; Geraedts, Joep; Fryns, Jean-Pierre; Vermeesch, Joris; Raynaud, Martine; Riess, Olaf; Gribnau, Joost; Katsanis, Nicholas; Devriendt, Koen; Bauer, Peter; Gecz, Jozef; Golzio, Christelle; Gontan, Cristina; Kalscheuer, Vera M. (2019)
  • Position of the conus medullaris in fetuses with skeletal dysplasia
    Hoopmann, Markus; Sonek, Jiri; Schramm, Thomas; Zubke, Wolfgang; Dufke, Andreas; Kagan, Karl Oliver (2012)
  • Präkonzeptionelle und vorgeburtliche klinische Genomsequenzierung
    Dufke, Andreas; Riess, Olaf (2014)
  • Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter -> q21.11::p23.3 -> qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature
    Habhab, Wisam; Mau-Holzmann, Ulrike; Singer, Sylke; Rie, Angelika; Kagan, Karl-Oliver; Gerbig, Ines; Schaeferhoff, Karin; Dufke, Andreas; Kehrer, Martin (2020)
  • Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series
    Brar, Bobby K.; Thompson, Marisa Gilstrop; Vora, Neeta L.; Gilmore, Kelly; Blakemore, Karin; Miller, Kristen A.; Giordano, Jessica; Dufke, Andreas; Wong, Beatrix; Stover, Samantha; Lianoglou, Billie; Van den Veyver, Ignatia; Dempsey, Esther; Rosner, Mara; Chong, Karen; Chitayat, David; Sparks, Teresa N.; Norton, Mary E.; Wapner, Ronald; Baranano, Kristin; Jelin, Angie C. (2022)
  • Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
    Dhombres, Ferdinand; Morgan, Patricia; Chaudhari, Bimal P.; Filges, Isabel; Sparks, Teresa N.; Lapunzina, Pablo; Roscioli, Tony; Agarwal, Umber; Aggarwal, Shagun; Beneteau, Claire; Cacheiro, Pilar; Carmody, Leigh C.; Collardeau-Frachon, Sophie; Dempsey, Esther A.; Dufke, Andreas; Duyzend, Michael Henri; el Ghosh, Mirna; Giordano, Jessica L.; Glad, Ragnhild; Grinfelde, Ieva; Iliescu, Dominic G.; Ladewig, Markus S.; Munoz-Torres, Monica C.; Pollazzon, Marzia; Radio, Francesca Clementina; Rodo, Carlota; Silva, Raquel Gouveia; Smedley, Damian; Sundaramurthi, Jagadish Chandrabose; Toro, Sabrina; Valenzuela, Irene; Vasilevsky, Nicole A.; Wapner, Ronald J.; Zemet, Roni; Haendel, Melissa A.; Robinson, Peter N. (2022)
  • Prenatal testing for Imprinting Disorders: A clinical perspective
    Dufke, Andreas; Eggermann, Thomas; Kagan, Karl Oliver; Hoopmann, Markus; Elbracht, Miriam (2023)
  • Prenatal testing for imprinting disorders: A laboratory perspective
    Beygo, Jasmin; Russo, Silvia; Tannorella, Pierpaola; Santen, Gijs W. E.; Dufke, Andreas; Schlaich, Elia; Eggermann, Thomas (2023)
  • Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
    Rauch, Anita; Wieczorek, Dagmar; Graf, Elisabeth; Wieland, Thomas; Endele, Sabine; Schwarzmayr, Thomas; Albrecht, Beate; Bartholdi, Deborah; Beygo, Jasmin; Di Donato, Nataliya; Dufke, Andreas; Cremer, Kirsten; Hempel, Maja; Horn, Denise; Hoyer, Juliane; Joset, Pascal; Ropke, Albrecht; Moog, Ute; Riess, Angelika; Thiel, Christian T.; Tzschach, Andreas; Wiesener, Antje; Wohlleber, Eva; Zweier, Christiane; Ekici, Arif B.; Zink, Alexander M.; Rump, Andreas; Meisinger, Christa; Grallert, Harald; Sticht, Heinrich; Schenck, Annette; Engels, Hartmut; Rappold, Gudrun; Schrock, Evelin; Wieacker, Peter; Riess, Olaf; Meitinger, Thomas; Reis, Andre; Strom, Tim M. (2012)
  • Renal cystic disease and associated ciliopathies
    Kagan, Karl O.; Dufke, Andreas; Gembruch, Ulrich (2017)
  • S2k-Leitlinie Humangenetische Diagnostik und Genetische Beratung
    Dufke, Andreas; Hoffmann, Katrin; Wildhardt, Gabriele; Oeffner, Frank (2018)
  • SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome
    Krieger, Michael; Roos, Andreas; Stendel, Claudia; Claeys, Kristl G.; Sonmez, Fatma Mujgan; Baudis, Michael; Bauer, Peter; Bornemann, Antje; de Goede, Christian; Dufke, Andreas; Finkel, Richard S.; Goebel, Hans H.; Haeussler, Martin; Kingston, Helen; Kirschner, Janbernd; Medne, Livija; Muschke, Petra; Rivier, Francois; Rudnik-Schoeneborn, Sabine; Spengler, Sabrina; Inzana, Francesca; Stanzial, Franco; Benedicenti, Francesco; Synofzik, Matthis; Lia Taratuto, Ana; Pirra, Laura; Tay, Stacey Kiat-Hong; Topaloglu, Haluk; Uyanik, Goekhan; Wand, Dorothea; Williams, Denise; Zerres, Klaus; Weis, Joachim; Senderek, Jan (2013)
  • The power of the Mediator complex : Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders
    Charzewska, A.; Maiwald, R.; Kahrizi, K.; Oehl-Jaschkowitz, B.; Dufke, A.; Lemke, J. R.; Enders, H.; Najmabadi, H.; Tzschach, A.; Hachmann, W.; Jensen, C.; Bienek, M.; Poznanski, J.; Nawara, M.; Chilarska, T.; Obersztyn, E.; Hoffman-Zacharska, D.; Gos, M.; Bal, J.; Kalscheuer, V. M. (2018)
  • UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays
    Schroeder, Christopher; Sturm, Marc; Dufke, Andreas; Mau-Holzmann, Ulrike; Eggermann, Thomas; Poths, Sven; Riess, Olaf; Bonin, Michael (2013)
  • X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
    Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P. M.; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A-K; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, K. E. P.; Jimenez-Pocquet, M.; Moizard, M-P; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; Van Boemmel, A.; Goeke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Mueller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bielenska, A.; Ousager, L. B.; Wieacker, P.; Criado, G. Rodriguez; Bondeson, M-L; Anneren, G.; Dufke, A.; Cohen, M.; Van Maldergem, L.; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J-P; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H-H; Kalscheuer, V. M. (2016)