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Bradshaw, Merrill Komponist; DeSpain, Lisa Komponist; Díaz, Francisco Estévez Komponist; Lowe, Laurence Komponist; Manookian, Jeff Komponist; McConkie, James Komponist; Pew, Douglas Komponist; Robertson, Leroy Komponist; Sargent, David H. Komponist; Shepherd, Arthur Komponist; Tian, Leilei Komponist; Wickman, Ethan KomponistPiano Recital: Holden, Scott - SHEPHERD, A. / ROBERTSON, L. / BRADSHAW, M. / WICKMAN, E. (The Unknown Galaxy - A Century of Classical Mormon Music)View onlineSchließen
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Published in: Tantara Records
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Farber, James M.; McConkie, Alan B.Optical motions as information for unsigned depthView onlineSchließen
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Published in: Journal of Experimental Psychology: Human Perception and Performance
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Farber, James M.; McConkie, Alan B.Optical motions as information for unsigned depthView onlineSchließen
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Published in: Journal of Experimental Psychology: Human Perception and Performance
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McConkie, Alan B.; Farber, James M.Relation between perceived depth and perceived motion in uniform flow fieldsView onlineSchließen
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Published in: Journal of Experimental Psychology: Human Perception and Performance
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McConkie, Alan B.; Farber, James M.Relation between perceived depth and perceived motion in uniform flow fieldsView onlineSchließen
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Published in: Journal of Experimental Psychology: Human Perception and Performance
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Veiga-da-Cunha, Maria; Gerin, Isabelle; Chen, Yuan-Tsong; de Barsy, Thierry; de Lonlay, Pascale; Dionisi-Vici, Carlo; Fenske, Christiane D.; Lee, Philip J.; Leonard, James V.; Maire, Irène; McConkie-Rosell, Allyn; Schweitzer, Susanne; Vikkula, Miikka; Van Schaftingen, EmileA Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and IcView onlineSchließen
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Published in: The American Journal of Human Genetics
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Zhang, Chaofan; Jolly, Angad; Shayota, Brian J.; Mazzeu, Juliana F.; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; Ramalho de Lima, Ariadne; Ferreira, Bárbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D.; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N.; [...]Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityView onlineSchließen
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Published in: Human Genetics and Genomics Advances
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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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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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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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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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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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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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Lu, Jinfeng; Toro, Camilo; Adams, David R.; Acosta, Maria T.; Adam, Margaret; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; [...]LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsView onlineSchließen
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Published in: BMC Genomics
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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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Morimoto, Marie; Bhambhani, Vikas; Gazzaz, Nour; Davids, Mariska; Sathiyaseelan, Paalini; Macnamara, Ellen F.; Lange, Jennifer; Lehman, Anna; Zerfas, Patricia M.; Murphy, Jennifer L.; Acosta, Maria T.; Wang, Camille; Alderman, Emily; Adam, Margaret; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; [...]Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairmentView onlineSchließen
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Published in: npj Genomic Medicine
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Tepe, Burak; Macke, Erica L.; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A.; Schaefer, G. Bradley; Granadillo De Luque, Jorge Luis; Wegner, Daniel J.; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J.; Pais, Lynn S.; Neil, Jennifer E.; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; [...]Bi-allelic variants in INTS11 are associated with a complex neurological disorderView onlineSchließen
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Published in: The American Journal of Human Genetics
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Spillmann, Rebecca C.; Tan, Queenie K.-G.; Reuter, Chloe; Schoch, Kelly; Kohler, Jennefer; Bonner, Devon; Zastrow, Diane; Alkelai, Anna; Baugh, Evan; Cope, Heidi; Marwaha, Shruti; Wheeler, Matthew T.; Bernstein, Jonathan A.; Shashi, Vandana; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; [...]A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases NetworkView onlineSchließen
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Published in: Genetics in Medicine
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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