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  1. Graeser, Camille [Illustrator]; Hausdorff, Vera [Other]; Gassen, Richard W. [Other] ; Camille-Graeser-Stiftung, Museum Haus Konstruktiv, Museum Ritter, Ausstellung Camille Graeser, Vom Entwurf zum Bild, Ideenskizzen und Entwurfszeichnungen 1938 - 1978 2009 - 2010 Zürich; Waldenbuch

    Camille Graeser : vom Entwurf zum Bild ; Entwurfszeichnungen und Ideenskizzen 1938 bis 1978 ; [... begleitet von der Ausstellung Camille Graeser. vom Entwurf zum Bild. Ideenskizzen und Entwurfszeichnungen 1938 - 1978, Haus Konstruktiv, Zürich 11. Juni bis 2. August 2009 ; Museum Ritter, Waldenbuch 8. Mai bis 19. September 2010] - [1. Aufl.]

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    Köln: Wienand, 2009

  2. Frints, Suzanna G.M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordaß, Ulrike; Webster, Richard; Sinnema, Margje; Abdul‐Rahman, Omar; Suckow, Vanessa; Fernández‐Jaén, Alberto; Roozendaal, Kees; Stevens, Servi J.C.; Macville, Merryn V.E.; Al‐Nasiry, Salwan; Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M.; McGregor, Lesley; Maas, Saskia M.; Baralle, Diana; [...]

    Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

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    Hindawi Limited, 2019

    Published in: Human Mutation

  3. Tran Mau-Them, F.; Guibaud, L.; Duplomb, L.; Keren, B.; Lindstrom, K.; Marey, I.; Mochel, F.; van den Boogaard, M.J.; Oegema, R.; Nava, C.; Masurel, A.; Jouan, T.; Jansen, F.E.; Au, M.; Chen, Agnes H.; Cho, M.; Duffourd, Y.; Lozier, E.; Konovalov, F.; Sharkov, A.; Korostelev, S.; Urteaga, B.; Dickson, P.; Vera, M.; [...]

    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

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    Elsevier BV, 2019

    Published in: Genetics in Medicine

  4. Kievit, Anneke; Tessadori, Federico; Douben, Hannie; Jordens, Ingrid; Maurice, Madelon; Hoogeboom, Jeannette; Hennekam, Raoul; Nampoothiri, Sheela; Kayserili, Hülya; Castori, Marco; Whiteford, Margo; Motter, Connie; Melver, Catherine; Cunningham, Michael; Hing, Anne; Kokitsu-Nakata, Nancy M.; Vendramini-Pittoli, Siulan; Richieri-Costa, Antonio; Baas, Annette F.; Breugem, Corstiaan C.; Duran, Karen; Massink, Maarten; Derksen, Patrick W. B.; van IJcken, Wilfred F. J.; [...]

    Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

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    Springer Science and Business Media LLC, 2018

    Published in: European Journal of Human Genetics

  5. Niturad, Cristina Elena; Lev, Dorit; Kalscheuer, Vera M; Charzewska, Agnieszka; Schubert, Julian; Lerman-Sagie, Tally; Kroes, Hester Y; Oegema, Renske; Traverso, Monica; Specchio, Nicola; Lassota, Maria; Chelly, Jamel; Bennett-Back, Odeya; Carmi, Nirit; Koffler-Brill, Tal; Iacomino, Michele; Trivisano, Marina; Capovilla, Giuseppe; Striano, Pasquale; Nawara, Magdalena; Rzońca, Sylwia; Fischer, Ute; Bienek, Melanie; Jensen, Corinna; [...]

    Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

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    Oxford University Press (OUP), 2017

    Published in: Brain

  6. Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Ray; Lanpher, Brendan C; Kemppainen, Jennifer L; Innes, Micheil; Kooy, Frank; Meuwissen, Marije; [...]

    De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

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    BMJ, 2022

    Published in: Journal of Medical Genetics

  7. Snijders Blok, Lot; Madsen, Erik; Juusola, Jane; Gilissen, Christian; Baralle, Diana; Reijnders, Margot R.F.; Venselaar, Hanka; Helsmoortel, Céline; Cho, Megan T.; Hoischen, Alexander; Vissers, Lisenka E.L.M.; Koemans, Tom S.; Wissink-Lindhout, Willemijn; Eichler, Evan E.; Romano, Corrado; Van Esch, Hilde; Stumpel, Connie; Vreeburg, Maaike; Smeets, Eric; Oberndorff, Karin; van Bon, Bregje W.M.; Shaw, Marie; Gecz, Jozef; Haan, Eric; [...]

    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

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    Elsevier BV, 2015

    Published in: The American Journal of Human Genetics

  8. Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, Elma; Agam, Galila; Agarwal, Anupam; Aggarwal, Bharat B.; Agnello, Maria; Agostinis, Patrizia; Agrewala, Javed N.; Agrotis, Alexander; Aguilar, Patricia V.; Ahmad, S. Tariq; [...]

    Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

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    Informa UK Limited, 2021

    Published in: Autophagy