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Dines, Alberto [Author]; Beloch, Israel [Author]; Michahelles, Kristina [Author] ; Dines, Alberto [Editor]; Beloch, Israel [Editor]; Michahelles, Kristina [Editor]; Krier, Stephan [Translator]; Krier, Stephan Alexander [Translator] Hentrich & HentrichStefan Zweig und sein Freundeskreis : sein letztes Adressbuch 1940-1942 - [Deutsche Erstausgabe, 1. Auflage]Close
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Enenkel, Karl [Author]; Michalsky, Tanja [Author]; Laureys, Marc [Author]; Trunk, Markus [Author]; Schröder, Stephan Michael [Author]; Boschung, Dietrich [Author]; Schade, Kathrin [Author]; Krier, Jean [Author]; Hanel, Norbert [Author]; Hufschmid, Thomas [Author]; Schäfer, Alfred [Author]; Goerlitz, Uta [Author] ; Boschung, Dietrich [Editor]; Schäfer, Alfred [Editor]Monumenta illustrata. Raumwissen und antiquarische GelehrsamkeitView onlineClose
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You can manage bookmarks using lists, please log in to your user account for this.Köln: Universitäts- und Stadtbibliothek Köln, 2019
Published in: Morphomata ; 41
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Abd-El-Jawad, Hassan R. [Contributor]; Abulhaija, Lutfi A [Contributor]; Alves, I. M. [Contributor]; Antos, G. [Contributor]; Arndt, Erwin [Contributor]; Bahner, Werner [Editor]; Bahns, J [Contributor]; Bajiev, Bojan [Contributor]; Barthel, H. [Contributor]; Basaj, M [Contributor]; Bellmann, Günter [Contributor]; Beneke, Jürgen [Contributor]; Benson, M. [Contributor]; Bentzinger, Rudolf [Contributor]; Berezan, S. [Contributor]; Bergmann, Christian [Contributor]; Betten, Anne [Contributor]; Bhatnagar, Y. C. [Contributor]; Blanár, Vincent [Contributor]; Blinkena, A. [Contributor]; Blutner, Reinhard [Contributor]; Bochmann, K [Contributor]; Boer, Minne-Gerben de [Contributor]; Brandt, B [Contributor]; [...]Proceedings of the Fourteenth International Congress of Linguists : Berlin, GDR, August 10 - August 15, 1987 : Volume 2 - [Reprint 2021]View onlineClose
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Published in: Proceedings of the Fourteenth International Congress of Linguists ; Volume 2
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Dobbels, Wouter; Krier, Serge; Pirson, Stephan; Viaene, Sébastien; De Geyter, Gert; Salim, Samir; Baes, MaartenMorphology-assisted galaxy mass-to-light predictions using deep learningView onlineSchließen
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Published in: Astronomy & Astrophysics
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Farace, Giovanni; Fernandez, Olivier; Jacquens, Lucile; Coutte, François; Krier, François; Jacques, Philippe; Clément, Christophe; Barka, Essaid Ait; Jacquard, Cédric; Dorey, StéphanCyclic lipopeptides from Bacillus subtilis activate distinct patterns of defence responses in grapevineView onlineSchließen
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Published in: Molecular Plant Pathology
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England, Scott L.; Meier, R. R.; Frey, Harald U.; Mende, Stephen B.; Stephan, Andrew W.; Krier, Christopher S.; Cullens, Chihoko Y.; Wu, Yen‐Jung J.; Triplett, Colin C.; Sirk, Martin M.; Korpela, Eric J.; Harding, Brian J.; Englert, Christoph R.; Immel, Thomas J.First Results From the Retrieved Column O/N2 Ratio From the Ionospheric Connection Explorer (ICON): Evidence of the Impacts of Nonmigrating TidesView onlineSchließen
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Published in: Journal of Geophysical Research: Space Physics
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Philippakis, Anthony A.; Azzariti, Danielle R.; Beltran, Sergi; Brookes, Anthony J.; Brownstein, Catherine A.; Brudno, Michael; Brunner, Han G.; Buske, Orion J.; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie O.M.; den Dunnen, Johan T.; Firth, Helen V.; Gibbs, Richard A.; Girdea, Marta; Gonzalez, Michael; Haendel, Melissa A.; Hamosh, Ada; Holm, Ingrid A.; Huang, Lijia; Hurles, Matthew E.; Hutton, Ben; Krier, Joel B.; [...]The Matchmaker Exchange: A Platform for Rare Disease Gene DiscoveryView onlineSchließen
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Published in: Human Mutation
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Kobren, Shilpa Nadimpalli; Baldridge, Dustin; Velinder, Matt; Krier, Joel B.; LeBlanc, Kimberly; Esteves, Cecilia; Pusey, Barbara N.; Züchner, Stephan; Blue, Elizabeth; Lee, Hane; Huang, Alden; Bastarache, Lisa; Bican, Anna; Cogan, Joy; Marwaha, Shruti; Alkelai, Anna; Murdock, David R.; Liu, Pengfei; Wegner, Daniel J.; Paul, Alexander J.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; [...]Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesView onlineSchließen
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Published in: Genetics in Medicine
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Ravenscroft, Thomas A.; Phillips, Jennifer B.; Fieg, Elizabeth; Bajikar, Sameer S.; Peirce, Judy; Wegner, Jeremy; Luna, Alia A.; Fox, Eric J.; Yan, Yi-Lin; Rosenfeld, Jill A.; Zirin, Jonathan; Kanca, Oguz; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; [...]Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11View onlineSchließen
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Published in: Genetics in Medicine
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Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Krier, Joel; Fieg, Elizabeth; Pallais, Juan C.; McConkie-Rosell, Allyn; McDonald, Marie; Freedman, Sharon F.; Rivière, Jean-Baptiste; Lafond-Lapalme, Joël; Simpson, Brittany N.; Hopkin, Robert J.; Trimouille, Aurélien; Van-Gils, Julien; Begtrup, Amber; McWalter, Kirsty; Delphine, Heron; Keren, Boris; [...]De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital DefectsView onlineSchließen
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Published in: The American Journal of Human Genetics
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Geng, Linda N; Kohler, Jennefer N; Levonian, Peter; Bernstein, Jonathan A; Ford, James M; Ahuja, Neera; Witteles, Ronald; Hom, Jason; Wheeler, Matthew; Acosta, Maria T; Adams, David R; Aday, Aaron; Alejandro, Mercedes E; Allard, Patrick; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F; Beggs, Alan H; [...]Genomics in medicine: a novel elective rotation for internal medicine residentsView onlineSchließen
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Published in: Postgraduate Medical Journal
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Dutta, Debdeep; Kanca, Oguz; Shridharan, Rishi V.; Marcogliese, Paul C.; Steger, Benjamin; Morimoto, Marie; Frost, F. Graeme; Macnamara, Ellen; Wangler, Michael F.; Yamamoto, Shinya; Jenny, Andreas; Adams, David; Malicdan, May C.; Bellen, Hugo J.; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Bellen, Hugo J.; Burrage, Lindsay C.; Chao, Hsiao-Tuan; Clark, Gary D.; Craigen, William J.; Dai, Hongzheng; [...]Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viabilityView onlineSchließen
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Published in: Proceedings of the National Academy of Sciences
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Srivastava, Siddharth; Shaked, Hagar Mor; Gable, Kenneth; Gupta, Sita D; Pan, Xueyang; Somashekarappa, Niranjanakumari; Han, Gongshe; Mohassel, Payam; Gotkine, Marc; Doney, Elizabeth; Goldenberg, Paula; Tan, Queenie K G; Gong, Yi; Kleinstiver, Benjamin; Wishart, Brian; Cope, Heidi; Pires, Claudia Brito; Stutzman, Hannah; Spillmann, Rebecca C; Alejandro, Mercedes E; Azamian, Mahshid S; Bacino, Carlos A; Balasubramanyam, Ashok; Burrage, Lindsay C; [...]SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaView onlineSchließen
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Published in: Brain
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Miller, Ilana M.; Yashar, Beverly M.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; [...]Continuing a search for a diagnosis: the impact of adolescence and family dynamicsView onlineSchließen
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Published in: Orphanet Journal of Rare Diseases
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Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Płoski, Rafal; Pienkowski, Victor Murcia; Kłosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; [...]Macrocephaly and developmental delay caused by missense variants in RAB5CView onlineSchließen
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Published in: Human Molecular Genetics
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Barish, Scott; Senturk, Mumine; Schoch, Kelly; Minogue, Amanda L; Lopergolo, Diego; Fallerini, Chiara; Harland, Jake; Seemann, Jacob H; Stong, Nicholas; Kranz, Peter G; Kansagra, Sujay; Mikati, Mohamad A; Jasien, Joan; El-Dairi, Mays; Galluzzi, Paolo; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; [...]The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorderView onlineSchließen
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Published in: Human Molecular Genetics
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Shankar, Suma P.; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Hörberg, Johanna; AlAbdi, Lama; Mayer, Klaus; Ütkür, Koray; Monaghan, Kristin G.; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R.; Schaffrath, Raffael; Alkuraya, Fowzan S.; Brinkmann, Ulrich; Eriksson, Leif A.; Lloyd, Kent; Rauen, Katherine A.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvey, Justin; [...]A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorderView onlineSchließen
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Published in: Genetics in Medicine
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Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P.N.; van Lint, Alida E.M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J.; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; [...]An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsView onlineSchließen
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Published in: Genetics in Medicine
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Schoch, Kelly; Esteves, Cecilia; Bican, Anna; Spillmann, Rebecca; Cope, Heidi; McConkie-Rosell, Allyn; Walley, Nicole; Fernandez, Liliana; Kohler, Jennefer N.; Bonner, Devon; Reuter, Chloe; Stong, Nicholas; Mulvihill, John J.; Novacic, Donna; Wolfe, Lynne; Abdelbaki, Ayat; Toro, Camilo; Tifft, Cyndi; Malicdan, May; Gahl, William; Liu, Pengfei; Newman, John; Goldstein, David B.; Hom, Jason; [...]Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceView onlineSchließen
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Published in: Genetics in Medicine
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Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P.N.; van Lint, Alida E.M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J.; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; [...]Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsView onlineSchließen
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Published in: Genetics in Medicine