Auflistung Universitätsbibliographie nach Autor "Riess, Angelika"

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Auflistung Universitätsbibliographie nach Autor "Riess, Angelika"

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  • Interstitial 3p25.3-p26.1 Deletion in a Patient With Intellectual Disability
    Riess, Angelika; Grasshoff, Ute; Schaeferhoff, Karin; Bonin, Michael; Riess, Olaf; Horber, Veronka; Tzschach, Andreas (2012)
  • Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort
    Beck-Wödl, Stefanie; Kehrer, Christiane; Harzer, Klaus; Haack, Tobias; Bürger, Friederike; Haas, Dorothea; Riess, Angelika; Gröschel, Samuel; Krägeloh-Mann, Ingeborg; Böhringer, Judith (2021)
  • Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
    Hengel, Holger; Bosso-Lefevre, Celia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Elise; Tan, Thong-Teck; Eio, Michelle Y.; Narayanan, Gunaseelan; Utami, Kagistia Hana; Yau, Monica; Handal, Nader; Deigendesch, Werner; Keimer, Reinhard; Marzouqa, Hiyam M.; Gunay-Aygun, Meral; Muriello, Michael J.; Verhelst, Helene; Weckhuysen, Sarah; Mahida, Sonal; Naidu, Sakkubai; Thomas, Terrence G.; Lim, Jiin Ying; Tan, Ee Shien; Haye, Damien; Willemsen, Michel A. A. P.; Oegema, Renske; Mitchell, Wendy G.; Pierson, Tyler Mark; Andrews, Marisa V.; Willing, Marcia C.; Rodan, Lance H.; Barakat, Tahsin Stefan; van Slegtenhorst, Marjon; Gavrilova, Ralitza H.; Martinelli, Diego; Gilboa, Tal; Tamim, Abdullah M.; Hashem, Mais O.; AlSayed, Moeenaldeen D.; Abdulrahim, Maha M.; Al-Owain, Mohammed; Awaji, Ali; Mahmoud, Adel A. H.; Faqeih, Eissa A.; Al Asmari, Ali; Algain, Sulwan M.; Jad, Lamyaa A.; Aldhalaan, Hesham M.; Helbig, Ingo; Koolen, David A.; Riess, Angelika; Kraegeloh-Mann, Ingeborg; Bauer, Peter; Gulsuner, Suleyman; Stamberger, Hannah; Ng, Alvin Yu Jin; Tang, Sha; Tohari, Sumanty; Keren, Boris; Schultz-Rogers, Laura E.; Klee, Eric W.; Barresi, Sabina; Tartaglia, Marco; Mor-Shaked, Hagar; Maddirevula, Sateesh; Begtrup, Amber; Telegrafi, Aida; Pfundt, Rolph; Schuele, Rebecca; Ciruna, Brian; Bonnard, Carine; Pouladi, Mahmoud A.; Stewart, James C.; Claridge-Chang, Adam; Lefeber, Dirk J.; Alkuraya, Fowzan S.; Mathuru, Ajay S.; Venkatesh, Byrappa; Barycki, Joseph J.; Simpson, Melanie A.; Jamuar, Saumya S.; Schoels, Ludger; Reversade, Bruno (2020)
  • Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome
    Di Donato, N.; Riess, A.; Hackmann, K.; Rump, A.; Huebner, A.; von der Hagen, M.; Hahn, G.; Schrock, E.; Tinschert, S. (2012)
  • Miller (GeneWiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
    Rainger, Joe; Bengani, Hemant; Campbell, Leigh; Anderson, Eve; Sokhi, Kishan; Lam, Wayne; Riess, Angelika; Ansari, Morad; Smithson, Sarah; Lees, Melissa; Mercer, Catherine; McKenzie, Kathryn; Lengfeld, Tobias; Gener Querol, Blanca; Branney, Peter; McKay, Stewart; Morrison, Harris; Medina, Bethan; Robertson, Morag; Kohlhase, Juergen; Gordon, Colin; Kirk, Jean; Wieczorek, Dagmar; FitzPatrick, David R. (2012)
  • Mirror-image asymmetry in monozygotic twins with kabuki syndrome
    Rieß, Angelika; Dufke, Andrea; Rieß, Olaf; Beck-Wödl, Stefanie; Fode, Bernd; Tzschach, Andreas; Skladny, Heyko; Kläs, Rüdiger (2012)
  • Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
    Tiong Yang Tan; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J.; Strauss, Kevin A.; Brigatti, Karlla; Puffenberger, Erik; Li, Dong; Xie, LiQin; Das, Nanditha; Skubas, Ioanna; Deckelbaum, Ron A.; Hughes, Virginia; Brydges, Susannah; Hatsell, Sarah; Siao, Chia-Jen; Dominguez, Melissa G.; Economides, Aris; Overton, John D.; Mayne, Valerie; Simm, Peter J.; Jones, Bryn O.; Eggers, Stefanie; Le Guyader, Gwenael; Pelluard, Fanny; Haack, Tobias B.; Sturm, Marc; Riess, Angelika; Waldmueller, Stephan; Hofbeck, Michael; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Hakonarson, Hakon; Baker, Naomi L.; Farlie, Peter G. (2017)
  • Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
    Garbes, Lutz; Kim, Kyungho; Riess, Angelika; Hoyer-Kuhn, Heike; Beleggia, Filippo; Bevot, Andrea; Kim, Mi Jeong; Huh, Yang Hoon; Kweon, Hee-Seok; Savarirayan, Ravi; Amor, David; Kakadia, Purvi M.; Lindig, Tobias; Kagan, Karl Oliver; Becker, Jutta; Boyadjiev, Simeon A.; Wollnik, Bernd; Semler, Oliver; Bohlander, Stefan K.; Kim, Jinoh; Netzer, Christian (2015)
  • Next-generation sequencing in X-linked intellectual disability
    Tzschach, Andreas; Grasshoff, Ute; Beck-Woedl, Stefanie; Dufke, Claudia; Bauer, Claudia; Kehrer, Martin; Evers, Christina; Moog, Ute; Oehl-Jaschkowitz, Barbara; Di Donato, Nataliya; Maiwald, Robert; Jung, Christine; Kuechler, Alma; Schulz, Solveig; Meinecke, Peter; Spranger, Stephanie; Kohlhase, Juergen; Seidel, Joerg; Reif, Silke; Rieger, Manuela; Riess, Angelika; Sturm, Marc; Bickmann, Julia; Schroeder, Christopher; Dufke, Andreas; Riess, Olaf; Bauer, Peter (2015)
  • Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability
    Bisschoff, Izak J.; Zeschnigk, Christine; Horn, Denise; Wellek, Brigitte; Riess, Angelika; Wessels, Maja; Willems, Patrick; Jensen, Peter; Busche, Andreas; Bekkebraten, Jens; Chopra, Maya; Hove, Hanne Dahlgaard; Evers, Christina; Heimdal, Ketil; Kaiser, Ann-Sophie; Kunstmann, Erdmut; Robinson, Kristina Lagerstedt; Linne, Maja; Martin, Patricia; McGrath, James; Pradel, Winnie; Prescott, Katrina E.; Roesler, Bernd; Rudolf, Gorazd; Siebers-Renelt, Ulrike; Tyshchenko, Nataliya; Wieczorek, Dagmar; Wolff, Gerhard; Dobyns, William B.; Morris-Rosendahl, Deborah J. (2013)
  • PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome
    Krawitz, Peter M.; Murakami, Yoshiko; Riess, Angelika; Hietala, Marja; Krueger, Ulrike; Zhu, Na; Kinoshita, Taroh; Mundlos, Stefan; Hecht, Jochen; Robinson, Peter N.; Horn, Denise (2013)
  • PIK3R1 mutations in SHORT syndrome
    Schroeder, C.; Riess, A.; Bonin, M.; Bauer, P.; Riess, O.; Doebler-Neumann, M.; Wieser, S.; Moog, U.; Tzschach, A. (2014)
  • Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
    Laugwitz, Lucia; Buchert, Rebecca; Groeschel, Samuel; Riess, Angelika; Grimmel, Mona; Beck-Woedl, Stefanie; Sturm, Marc; Gohla, Georg; Doebler-Neumann, Marion; Kraegeloh-Mann, Ingeborg; Haack, Tobias B. (2020)
  • 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)
  • 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)
  • Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice
    Pringsheim, Milka; Mitter, Diana; Schroeder, Simone; Warthemann, Rita; Pluemacher, Kim; Kluger, Gerhard; Baethmann, Martina; Bast, Thomas; Braun, Sarah; Buettel, Hans-Martin; Conover, Elizabeth; Courage, Carolina; Datta, Alexandre N.; Eger, Angelika; Grebe, Theresa A.; Hasse-Wittmer, Annette; Heruth, Marion; Hoeft, Karen; Kaindl, Angela M.; Karch, Stephanie; Kautzky, Torsten; Korenke, Georg C.; Kruse, Bernd; Lutz, Richard E.; Omran, Heymut; Patzer, Steffi; Philippi, Heike; Ramsey, Keri; Rating, Tina; Riess, Angelika; Schimmel, Mareike; Westman, Rachel; Zech, Frank-Martin; Zirn, Birgit; Ulmke, Pauline A.; Sokpor, Godwin; Tuoc, Tran; Leha, Andreas; Staudt, Martin; Brockmann, Knut (2019)
  • The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
    Rots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Lisenka, Vissers E. L. M.; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B. A.; van Jaarsveld, Richard H.; Hopman, Saskia M. J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortuem, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibaek, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Garcia, Maria Soledad Lopez; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simoes, Maria Jose; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tiller, George E.; Bosch, Danielle G. M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Benedicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Riess, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C. E.; Hicks, Alesha; Suri, Mohnish (2023)
  • The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
    Marbach, Felix; Rustad, Cecilie F.; Riess, Angelika; Dukic, Dejan; Hsieh, Tzung-Chien; Jobani, Itamar; Prescott, Trine; Bevot, Andrea; Erger, Florian; Houge, Gunnar; Redfors, Maria; Altmueller, Janine; Stokowy, Tomasz; Gilissen, Christian; Kubisch, Christian; Scarano, Emanuela; Mazzanti, Laura; Fiskerstrand, Torunn; Krawitz, Peter M.; Lessel, Davor; Netzer, Christian (2019)
  • The impact of an audience response system on a summative assessment, a controlled field study
    Schmidt, Thorsten; Gazou, Anastasia; Riess, Angelika; Riess, Olaf; Grundmann-Hauser, Kathrin; Falb, Ruth; Schadeck, Malou; Heinrich, Tilman; Abeditashi, Mahkameh; Schmidt, Jana; Mau-Holzmann, Ulrike A.; Schnabel, Kai P. (2020)
  • X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
    Czeschik, Johanna Christina; Bauer, Peter; Buiting, Karin; Dufke, Claudia; Guillen-Navarro, Encarna; Johnson, Diana S.; Koehler, Udo; Lopez-Gonzalez, Vanesa; Luedecke, Hermann-Josef; Male, Alison; Morrogh, Deborah; Riess, Angelika; Tzschach, Andreas; Wieczorek, Dagmar; Kuechler, Alma (2013)