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Schoch, Anna N. [Author]Altersspezifische Verhaltensweisen : eine empirische Studie über Einstellungsveränderungen im mittleren ErwachsenenalterClose
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Beethoven, Ludwig van [Other]; Zimmermann, Bernd Alois [Other]; Haas, Pavel [Other]; Hindemith, Paul [Other]; Hummel, Johann Nepomuk [Other]; Mozart, Wolfgang Amadeus [Other]; Reger, Max [Other]; Haydn, Joseph [Other]; Martinů, Bohuslav [Other]; Chopin, Frédéric [Other]; Strauss, Richard [Other]; Hakim, Naji [Other]; Mausz, Ferenc [Honoree]; Lachat, Marc [Honoree]; Schöch, Michael [Honoree]; Gorlatch, Alexej [Performer]; Blanco, Manuel [Performer]; Goday, Cristina Gómze [Performer]; Stollhof, Lukas [Performer]; Huang, Tori [Performer]; Kim, Da Sol [Performer]; Tondre, Philippe [Performer]; Baltrusch, Anna-Victoria [Performer] ; Der Bayerische Rundfunk Symphonieorchester60. Internationaler Musikwettbewerb der ARD München 2011 (2 CDs)Close
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Naumann, Christian Nicolaus [Author] ; Karl I. Braunschweig-Lüneburg, Herzog [Other]; Schill, Johann Friedrich [Printer]Rede welche an dem hohen und höchsterfreulichen Gebuhrtsfeste Des Durchlauchtigsten Fürsten und Herrn, Herrn Carl, Regierernden Herzogs zu Braunschweig und Lüneburg, den 1. des AugustMonats 1749. in der teutschen Gesellschaft zu Jena gehalten wordenView onlineClose
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Wells, Amy; Harmel, Allison; Smith, Kristin N; Beers, Paula; Qiu, Yingjie; Datta, Susmita; Schoch, Jennifer J; De Benedetto, Anna; Longo, Isabel; Motaparthi, KiranImpact of Skin Biopsy and Clinical-Pathologic Correlation in Dermatology Inpatient ConsultsView onlineSchließen
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Published in: Cureus
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Kasperavičiūtė, Dalia; Catarino, Claudia B.; Matarin, Mar; Leu, Costin; Novy, Jan; Tostevin, Anna; Leal, Bárbara; Hessel, Ellen V. S.; Hallmann, Kerstin; Hildebrand, Michael S.; Dahl, Hans-Henrik M.; Ryten, Mina; Trabzuni, Daniah; Ramasamy, Adaikalavan; Alhusaini, Saud; Doherty, Colin P.; Dorn, Thomas; Hansen, Jörg; Krämer, Günter; Steinhoff, Bernhard J.; Zumsteg, Dominik; Duncan, Susan; Kälviäinen, Reetta K.; Eriksson, Kai J.; [...]Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1AView onlineSchließen
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Published in: Brain
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Shashi, Vandana; Schoch, Kelly; Spillmann, Rebecca; Cope, Heidi; Tan, Queenie K.-G.; Walley, Nicole; Pena, Loren; McConkie-Rosell, Allyn; Jiang, Yong-Hui; Stong, Nicholas; Need, Anna C.; Goldstein, David B.; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bellen, Hugo J.; [...]A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negativeView onlineSchließen
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Published in: Genetics in Medicine
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Cleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S.; Heung, Tracy; Holleman, Aaron M.; Johnston, H. Richard; Monfeuga, Thomas; McDonald-McGinn, Donna M.; Gur, Raquel E.; Morrow, Bernice E.; Swillen, Ann; Vorstman, Jacob A. S.; Bearden, Carrie E.; Chow, Eva W. C.; van den Bree, Marianne; Emanuel, Beverly S.; Vermeesch, Joris R.; Warren, Stephen T.; Owen, Michael J.; Chopra, Pankaj; Cutler, David J.; Duncan, Richard; Kotlar, Alex V.; Mulle, Jennifer G.; [...]Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletionView onlineSchließen
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Published in: Molecular Psychiatry
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Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R.; Stray-Pedersen, Asbjorg; Busk, Oyvind L.; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D.; Scaglia, Fernando; Rosenfeld, Jill A.; Tarpinian, Jennifer; Skraban, Cara M.; Deardorff, Matthew A.; Friedman, Jeremy N.; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A.; Kranz, Peter G.; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; [...]A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayView onlineSchließen
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Published in: The American Journal of Human Genetics
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Pena, Loren D.M.; Jiang, Yong-Hui; Schoch, Kelly; Spillmann, Rebecca C.; Walley, Nicole; Stong, Nicholas; Rapisardo Horn, Sarah; Sullivan, Jennifer A.; McConkie-Rosell, Allyn; Kansagra, Sujay; Smith, Edward C.; El-Dairi, Mays; Bellet, Jane; Keels, Martha Ann; Jasien, Joan; Kranz, Peter G.; Noel, Richard; Nagaraj, Shashi K.; Lark, Robert K.; Wechsler, Daniel S.G.; del Gaudio, Daniela; Leung, Marco L.; Hendon, Laura G.; Parker, Collette C.; [...]Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesView onlineSchließen
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Published in: Genetics in Medicine
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Shashi, Vandana; Pena, Loren D.M.; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M.; Cho, Megan; Stong, Nicholas; Hickey, Scott E.; Shuss, Christine M.; Freemark, Michael S.; Bellet, Jane S.; Keels, Martha Ann; Bonner, Melanie J.; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G.; Stumpel, Constance T.R.M.; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; [...]De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeView onlineSchließen
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Published in: The American Journal of Human Genetics
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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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Abou-Khalil, Bassel; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Balding, David J.; Bast, Thomas; Baum, Larry; Becker, Albert J.; Becker, Felicitas; Berghuis, Bianca; Berkovic, Samuel F.; Boysen, Katja E.; Bradfield, Jonathan P.; Brody, Lawrence C.; Buono, Russell J.; Campbell, Ellen; Cascino, Gregory D.; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cherny, Stacey S.; Chinthapalli, Krishna; Coffey, Alison J.; Compston, Alastair; Coppola, Antonietta; [...]Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsiesView onlineSchließen
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Published in: Nature Communications
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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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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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Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U.; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Bostwick, Bret L.; Burrage, Lindsay C.; Chen, Shan; [...]Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaView onlineSchließen
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Published in: Neurology Genetics
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Shashi, Vandana; Geist, Janelle; Lee, Youngha; Yoo, Yongjin; Shin, Unbeom; Schoch, Kelly; Sullivan, Jennifer; Stong, Nicholas; Smith, Edward; Jasien, Joan; Kranz, Peter; Lee, Yoonsung; Shin, Yong Beom; Wright, Nathan T.; Choi, Murim; Kontrogianni‐Konstantopoulos, Aikaterini; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; [...]Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposisView 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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Akula, Shyam K.; Marciano, Jack H.; Lim, Youngshin; Exposito-Alonso, David; Hylton, Norma K.; Hwang, Grace H.; Neil, Jennifer E.; Dominado, Nicole; Bunton-Stasyshyn, Rosie K.; Song, Janet H. T.; Talukdar, Maya; Schmid, Aloisia; Teboul, Lydia; Mo, Alisa; Shin, Taehwan; Finander, Benjamin; Beck, Samantha G.; Yeh, Rebecca C.; Otani, Aoi; Qian, Xuyu; DeGennaro, Ellen M.; Alkuraya, Fowzan S.; Maddirevula, Sateesh; Cascino, Gregory D.; [...]TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous systemView onlineSchließen
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Published in: Proceedings of the National Academy of Sciences
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Kyle, Jennifer E.; Stratton, Kelly G.; Zink, Erika M.; Kim, Young-Mo; Bloodsworth, Kent J.; Monroe, Matthew E.; Bacino, Carlos A.; Hanchard, Neil A.; Lewis, Richard A.; Rosenfeld, Jill A.; Scott, Daryl A.; Tran, Alyssa A.; Ward, Patricia A.; Burrage, Lindsay C.; Clark, Gary D.; Alejandro, Mercedes E.; Posey, Jennifer E.; Wangler, Michael F.; Lee, Brendan H.; Craigen, William J.; Bellen, Hugo J.; Nicholas, Sarah K.; Bostwick, Bret L.; Samson, Susan L.; [...]A resource of lipidomics and metabolomics data from individuals with undiagnosed diseasesView onlineSchließen
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Published in: Scientific Data
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Oláhová, Monika; Yoon, Wan Hee; Thompson, Kyle; Jangam, Sharayu; Fernandez, Liliana; Davidson, Jean M.; Kyle, Jennifer E.; Grove, Megan E.; Fisk, Dianna G.; Kohler, Jennefer N.; Holmes, Matthew; Dries, Annika M.; Huang, Yong; Zhao, Chunli; Contrepois, Kévin; Zappala, Zachary; Frésard, Laure; Waggott, Daryl; Zink, Erika M.; Kim, Young-Mo; Heyman, Heino M.; Stratton, Kelly G.; Webb-Robertson, Bobbie-Jo M.; Snyder, Michael; [...]Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderView onlineSchließen
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Published in: The American Journal of Human Genetics