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Berman, Eleanor [Other]; Briere, Alan [Illustrator]Neuengland : Indian Summer, Restaurants, Naturparks, Appalachen, Boston, Historie, B & B, Touren - [Aktualisierte Neuaufl. 2007/2008, Nachdr.]Close
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Published in: Vis-à-vis- Ein Dorling-Kindersley-Buch
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Berman, Eleanor [Other]; Briere, Alan [Illustrator]Neuengland : Indian Summer, Restaurants, Naturparks, Appalachen, Boston, Historie, B & B, Touren - [Aktual. Neuaufl., Nachdr.]Close
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Published in: Vis-à-vis- Ein Dorling-Kindersley-Buch
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Briere, Stephan C.; Watson, Alan K.; Hallett, Steve G.Oxalic Acid Production and Mycelial Biomass Yield of Sclerotinia minor for the Formulation Enhancement of a Granular Turf BioherbicideView onlineSchließen
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Published in: Biocontrol Science and Technology
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Tartarin, Pauline; Guibert, Edith; Touré, Aminata; Ouiste, Claire; Leclerc, Jocelyne; Sanz, Nieves; Brière, Sylvain; Dacheux, Jean-Louis; Delaleu, Bernadette; McNeilly, Judith R.; McNeilly, Alan S.; Brillard, Jean-Pierre; Dupont, Joëlle; Foretz, Marc; Viollet, Benoit; Froment, PascalInactivation of AMPKα1 Induces Asthenozoospermia and Alters Spermatozoa MorphologyView onlineSchließen
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Published in: Endocrinology
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Vassall, Kenrick A.; Stubbs, Helen R.; Primmer, Heather A.; Tong, Ming Sze; Sullivan, Sarah M.; Sobering, Ryan; Srinivasan, Saipraveen; Briere, Lee-Ann K.; Dunn, Stanley D.; Colón, Wilfredo; Meiering, Elizabeth M.; Fersht, Alan R.Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALSView onlineSchließen
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Published in: Proceedings of the National Academy of Sciences of the United States of America
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Marafioti, Teresa; Copie‐Bergman, Christiane; Calaminici, Maria; Paterson, Jennifer C; Shende, Vishvesh H; Liu, Hongxiang; Baia, Maryse; Ramsay, Alan D; Agostinelli, Claudio; Brière, Josette; Clear, Andrew; Du, Ming‐Qing; Piccaluga, Pier Paolo; Masir, Noraidah; Nacheva, Elizabeth P; Sujobert, Pierre; Shanmugam, Kandavel; Grogan, Thomas M; Brooks, Simon P; Khwaja, Asim; Ardeshna, Kirit; Townsend, William; Pileri, Stefano A; Haioun, Corinne; [...]Another look at follicular lymphoma: immunophenotypic and molecular analyses identify distinct follicular lymphoma subgroupsView onlineSchließen
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Published in: Histopathology
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Grünwald, Niklaus J.; Goss, Erica M.; Ivors, Kelly; Garbelotto, Matteo; Martin, Frank N.; Prospero, Simone; Hansen, Everett; Bonants, Peter J. M.; Hamelin, Richard C.; Chastagner, Gary; Werres, Sabine; Rizzo, David M.; Abad, Gloria; Beales, Paul; Bilodeau, Guillaume J.; Blomquist, Cheryl L.; Brasier, Clive; Brière, Stephan C.; Chandelier, Anne; Davidson, Jennifer M.; Denman, Sandra; Elliott, Marianne; Frankel, Susan J.; Goheen, Ellen M.; [...]Standardizing the Nomenclature for Clonal Lineages of the Sudden Oak Death Pathogen, Phytophthora ramorumView onlineSchließen
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Published in: Phytopathology®
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Kozycki, Christina Torres; Kodati, Shilpa; Huryn, Laryssa; Wang, Hongying; Warner, Blake M; Jani, Priyam; Hammoud, Dima; Abu-Asab, Mones S; Jittayasothorn, Yingyos; Mattapallil, Mary J; Tsai, Wanxia Li; Ullah, Ehsan; Zhou, Ping; Tian, Xiaoying; Soldatos, Ariane; Moutsopoulos, Niki; Kao-Hsieh, Marie; Heller, Theo; Cowen, Edward W; Lee, Chyi-Chia Richard; Toro, Camilo; Kalsi, Shelley; Khavandgar, Zohreh; Baer, Alan; [...]Gain-of-function mutations inALPK1cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndromeView onlineSchließen
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Published in: Annals of the Rheumatic Diseases
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Adams, Deborah A.; Thomas, Kimberly R.; Jajosky, Ruth Ann; Foster, Loretta; Sharp, Pearl; Onweh, Diana H.; Schley, Alan W.; Anderson, Willie J.; Arguin, Paul M.; Artus, Aileen; Benedict, Kaitlin; Blaney, David D.; Blanton, Jesse; Bowen, Anna; Bower, William A.; Briere, Elizabeth C.; Chatham-Stephens, Kevin; Chiller, Tom; Choi, Mary; Clemmons, Nakia; Cooney, Shannon; Cullen, Karen A.; Dahlgren, F. Scott; de St Maurice, Annabelle; [...]Summary of Notifiable Infectious Diseases and Conditions — United States, 2014View onlineSchließen
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Published in: MMWR. Morbidity and Mortality Weekly Report
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Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D.R.O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; [...]HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorderView onlineSchließen
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Published in: The American Journal of Human Genetics
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Morleo, Manuela; Venditti, Rossella; Theodorou, Evangelos; Briere, Lauren C.; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A.; Shi, Jiahai; Putti, Elena; Ferrante, Luigi; Cetrangolo, Viviana; Torella, Annalaura; Walker, Melissa A.; Tenconi, Romano; Iascone, Maria; Mei, Davide; Guerrini, Renzo; van der Smagt, Jasper; Kroes, Hester Y.; van Gassen, Koen L.I.; Bilal, Muhammad; Umair, Muhammad; [...]De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingView 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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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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Machol, Keren; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Nguyen, Thi Tuyet Mai; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Shashi, Vandana; Jiang, Yong-hui; Stong, Nicholas; Fiala, Elise; Willing, Marcia; Pfundt, Rolph; Kleefstra, Tjitske; Cho, Megan T.; McLaughlin, Heather; Rosello Piera, Monica; Orellana, Carmen; Martínez, Francisco; Caro-Llopis, Alfonso; Monfort, Sandra; Roscioli, Tony; Nixon, Cheng Yee; Buckley, Michael F.; [...]Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayView 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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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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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
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Marcogliese, Paul C.; Shashi, Vandana; Spillmann, Rebecca C.; Stong, Nicholas; Rosenfeld, Jill A.; Koenig, Mary Kay; Martínez-Agosto, Julián A.; Herzog, Matthew; Chen, Agnes H.; Dickson, Patricia I.; Lin, Henry J.; Vera, Moin U.; Salamon, Noriko; Graham, John M.; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; [...]IRF2BPL Is Associated with Neurological PhenotypesView onlineSchließen
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Published in: The American Journal of Human Genetics
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Marcogliese, Paul C.; Shashi, Vandana; Spillmann, Rebecca C.; Stong, Nicholas; Rosenfeld, Jill A.; Koenig, Mary Kay; Martínez-Agosto, Julián A.; Herzog, Matthew; Chen, Agnes H.; Dickson, Patricia I.; Lin, Henry J.; Vera, Moin U.; Salamon, Noriko; Graham, John M.; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; [...]IRF2BPL Is Associated with Neurological PhenotypesView onlineSchließen
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Published in: The American Journal of Human Genetics