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1دورية أكاديمية
المؤلفون: Bonfiglio, Ferdinando, Zheng, Tenghao, Garcia-Etxebarria, Koldo, Hadizadeh, Fatemeh, Bujanda, Luis, Bresso, Francesca, Agreus, Lars, Andreasson, Anna, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T, Karling, Pontus, Ohlsson, Bodil, Simren, Magnus, Walter, Susanna, Nardone, Gerardo, Cuomo, Rosario, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Latiano, Anna, Hübenthal, Matthias, Thijs, Vincent, Netea, Mihai G, Jonkers, Daisy, Chang, Lin, Mayer, Emeran A, Wouters, Mira M, Boeckxstaens, Guy, Camilleri, Michael, Franke, Andre, Zhernakova, Alexandra, D'Amato, Mauro
المصدر: Gastroenterology. 155(1)
مصطلحات موضوعية: Genetics, Prevention, Digestive Diseases, Pain Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, Chromosomes, Human, Pair 9, Constipation, Europe, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Irritable Bowel Syndrome, Male, Menarche, Middle Aged, Polymorphism, Single Nucleotide, Self Report, Sex Factors, Sweden, United States, SNP, Biobank Research, Bowel Symptoms, Clinical Sciences, Neurosciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/625706n2Test
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2دورية أكاديمية
المؤلفون: Lionel, Anath C, Tammimies, Kristiina, Vaags, Andrea K, Rosenfeld, Jill A, Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K, Pillalamarri, Vamsee K, Carter, Melissa T, Gazzellone, Matthew J, Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W, Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C, Leather, Susan, Trounce, John, Bedford, H Melanie, Hatchwell, Eli, Eis, Peggy S, Yuen, Ryan KC, Walker, Susan, Uddin, Mohammed, Geraghty, Michael T, Nikkel, Sarah M, Tomiak, Eva M, Fernandez, Bridget A, Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D, Schachar, Russell J, Roberts, Wendy, Paterson, Andrew D, So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Lowry, R Brian, Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R, Howe, Jennifer L, Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S, Wilks, Timothy M, Sorensen, Mark J, Bader, Patricia I, An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M, Della Monica, Matteo, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C, Talkowski, Michael E, Stavropoulos, Dimitri J, Marshall, Christian R, Scherer, Stephen W
المصدر: Human Molecular Genetics. 23(10)
مصطلحات موضوعية: Pediatric Research Initiative, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Human Genome, Neurosciences, Autism, Clinical Research, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 9, DNA Copy Number Variations, Exons, Female, Gene Expression, Genetic Association Studies, Genetic Predisposition to Disease, Glycoproteins, Humans, Infant, Infant, Newborn, Male, Nerve Tissue Proteins, Organ Specificity, Phenotype, Polymorphism, Single Nucleotide, Protein Isoforms, Receptors, Cell Surface, Risk Factors, Sequence Deletion, Transcription Factors, Transcription Initiation Site, Tripartite Motif Proteins, Ubiquitin-Protein Ligases, Young Adult, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/59x2g1gfTest
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3
المؤلفون: Eijsbouts, Chris, Zheng, Tenghao, Kennedy, Nicholas A., Bonfiglio, Ferdinando, Anderson, Carl A., Moutsianas, Loukas, Holliday, Joanne, Shi, Jingchunzi, Shringarpure, Suyash, Voda, Alexandru-Ioan, Farrugia, Gianrico, Franke, Andre, H��benthal, Matthias, Abecasis, Gon��alo, Zawistowski, Matthew, Skogholt, Anne Heidi, Ness-Jensen, Eivind, Hveem, Kristian, Esko, T��nu, Teder-Laving, Maris, Zhernakova, Alexandra, Camilleri, Michael, Boeckxstaens, Guy, Whorwell, Peter J., Spiller, Robin, McVean, Gil, D���Amato, Mauro, Jostins, Luke, Parkes, Miles, Agee, Michelle, Aslibekyan, Stella, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Clark, Sarah K., Elson, Sarah L., Fletez-Brant, Kipper, Fontanillas, Pierre, Furlotte, Nicholas A., Gandhi, Pooja M., Heilbron, Karl, Hicks, Barry, Hinds, David A., Huber, Karen E., Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., Luff, Marie K., McCreight, Jey C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Mozaffari, Sahar V., Nandakumar, Priyanka, Noblin, Elizabeth S., Northover, Carrie A. M., O���Connell, Jared, Petrakovitz, Aaron A., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shastri, Anjali J., Shelton, Janie F., Tian, Chao, Tung, Joyce Y., Tunney, Robert J., Vacic, Vladimir, Wang, Xin, Zare, Amir S., Kashyap, Purna, Chang, Lin, Mayer, Emeran, Heitkemper, Margaret, Sayuk, Gregory S., Ringel-Kulka, Tamar, Ringel, Yehuda, Chey, William D., Eswaran, Shanti, Merchant, Juanita L., Shulman, Robert J., Bujanda, Luis, Garcia-Etxebarria, Koldo, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T., Karling, Pontus, Ohlsson, Bodil, Walter, Susanna, Faresj��, ��shild O., Simren, Magnus, Halfvarson, Jonas, Portincasa, Piero, Barbara, Giovanni, Usai-Satta, Paolo, Neri, Matteo, Nardone, Gerardo, Cuomo, Rosario, Galeazzi, Francesca, Bellini, Massimo, Latiano, Anna, Houghton, Lesley, Jonkers, Daisy, Kurilshikov, Alexander, Weersma, Rinse K., Netea, Mihai, Tesarz, Jonas, Gauss, Annika, Goebel-Stengel, Miriam, Andresen, Viola, Frieling, Thomas, Pehl, Christian, Schaefert, Rainer, Niesler, Beate, Lieb, Wolfgang, Hanevik, Kurt, Langeland, Nina, Wensaas, Knut-Arne, Litleskare, Sverre, Gabrielsen, Maiken E., Thomas, Laurent, Thijs, Vincent, Lemmens, Robin, Van Oudenhove, Lukas, Wouters, Mira
المساهمون: Eijsbouts C., Zheng T., Kennedy N.A., Bonfiglio F., Anderson C.A., Moutsianas L., Holliday J., Shi J., Shringarpure S., Agee M., Aslibekyan S., Auton A., Bell R.K., Bryc K., Clark S.K., Elson S.L., Fletez-Brant K., Fontanillas P., Furlotte N.A., Gandhi P.M., Heilbron K., Hicks B., Hinds D.A., Huber K.E., Jewett E.M., Jiang Y., Kleinman A., Lin K.-H., Litterman N.K., Luff M.K., McCreight J.C., McIntyre M.H., McManus K.F., Mountain J.L., Mozaffari S.V., Nandakumar P., Noblin E.S., Northover C.A.M., O'Connell J., Petrakovitz A.A., Pitts S.J., Poznik G.D., Sathirapongsasuti J.F., Shastri A.J., Shelton J.F., Tian C., Tung J.Y., Tunney R.J., Vacic V., Wang X., Zare A.S., Voda A.-I., Kashyap P., Chang L., Mayer E., Heitkemper M., Sayuk G.S., Ringel-Kulka T., Ringel Y., Chey W.D., Eswaran S., Merchant J.L., Shulman R.J., Bujanda L., Garcia-Etxebarria K., Dlugosz A., Lindberg G., Schmidt P.T., Karling P., Ohlsson B., Walter S., Faresjo A.O., Simren M., Halfvarson J., Portincasa P., Barbara G., Usai-Satta P., Neri M., Nardone G., Cuomo R., Galeazzi F., Bellini M., Latiano A., Houghton L., Jonkers D., Kurilshikov A., Weersma R.K., Netea M., Tesarz J., Gauss A., Goebel-Stengel M., Andresen V., Frieling T., Pehl C., Schaefert R., Niesler B., Lieb W., Hanevik K., Langeland N., Wensaas K.-A., Litleskare S., Gabrielsen M.E., Thomas L., Thijs V., Lemmens R., Van Oudenhove L., Wouters M., Farrugia G., Franke A., Hubenthal M., Abecasis G., Zawistowski M., Skogholt A.H., Ness-Jensen E., Hveem K., Esko T., Teder-Laving M., Zhernakova A., Camilleri M., Boeckxstaens G., Whorwell P.J., Spiller R., McVean G., D'Amato M., Jostins L., Parkes M., Eijsbouts, Chris [0000-0001-5179-0653], Anderson, Carl A. [0000-0003-1719-7009], Moutsianas, Loukas [0000-0001-5453-345X], Holliday, Joanne [0000-0003-4568-7320], Shringarpure, Suyash [0000-0001-6464-2668], Voda, Alexandru-Ioan [0000-0003-2974-6992], Farrugia, Gianrico [0000-0003-3473-5235], Hübenthal, Matthias [0000-0002-5956-3006], Abecasis, Gonçalo [0000-0003-1509-1825], Zawistowski, Matthew [0000-0002-3005-083X], Ness-Jensen, Eivind [0000-0001-6005-0729], Teder-Laving, Maris [0000-0002-5872-1850], Camilleri, Michael [0000-0001-6472-7514], Whorwell, Peter J. [0000-0002-5220-8474], Spiller, Robin [0000-0001-6371-4500], McVean, Gil [0000-0002-5012-4162], D’Amato, Mauro [0000-0003-2743-5197], Jostins, Luke [0000-0002-2475-3969], Parkes, Miles [0000-0002-6467-0631], Apollo - University of Cambridge Repository, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Eijsbouts, C., Zheng, T., Kennedy, N. A., Bonfiglio, F., Anderson, C. A., Moutsianas, L., Holliday, J., Shi, J., Shringarpure, S., Agee, M., Aslibekyan, S., Auton, A., Bell, R. K., Bryc, K., Clark, S. K., Elson, S. L., Fletez-Brant, K., Fontanillas, P., Furlotte, N. A., Gandhi, P. M., Heilbron, K., Hicks, B., Hinds, D. A., Huber, K. E., Jewett, E. M., Jiang, Y., Kleinman, A., Lin, K. -H., Litterman, N. K., Luff, M. K., Mccreight, J. C., Mcintyre, M. H., Mcmanus, K. F., Mountain, J. L., Mozaffari, S. V., Nandakumar, P., Noblin, E. S., Northover, C. A. M., O'Connell, J., Petrakovitz, A. A., Pitts, S. J., Poznik, G. D., Sathirapongsasuti, J. F., Shastri, A. J., Shelton, J. F., Tian, C., Tung, J. Y., Tunney, R. J., Vacic, V., Wang, X., Zare, A. S., Voda, A. -I., Kashyap, P., Chang, L., Mayer, E., Heitkemper, M., Sayuk, G. S., Ringel-Kulka, T., Ringel, Y., Chey, W. D., Eswaran, S., Merchant, J. L., Shulman, R. J., Bujanda, L., Garcia-Etxebarria, K., Dlugosz, A., Lindberg, G., Schmidt, P. T., Karling, P., Ohlsson, B., Walter, S., Faresjo, A. O., Simren, M., Halfvarson, J., Portincasa, P., Barbara, G., Usai-Satta, P., Neri, M., Nardone, G., Cuomo, R., Galeazzi, F., Bellini, M., Latiano, A., Houghton, L., Jonkers, D., Kurilshikov, A., Weersma, R. K., Netea, M., Tesarz, J., Gauss, A., Goebel-Stengel, M., Andresen, V., Frieling, T., Pehl, C., Schaefert, R., Niesler, B., Lieb, W., Hanevik, K., Langeland, N., Wensaas, K. -A., Litleskare, S., Gabrielsen, M. E., Thomas, L., Thijs, V., Lemmens, R., Van Oudenhove, L., Wouters, M., Farrugia, G., Franke, A., Hubenthal, M., Abecasis, G., Zawistowski, M., Skogholt, A. H., Ness-Jensen, E., Hveem, K., Esko, T., Teder-Laving, M., Zhernakova, A., Camilleri, M., Boeckxstaens, G., Whorwell, P. J., Spiller, R., Mcvean, G., D'Amato, M., Jostins, L., Parkes, M.
المصدر: Nature Genetics
Nature genetics, 53(11), 1543-1552. Nature Publishing Groupمصطلحات موضوعية: Male, Molecular Chaperone, Mood Disorder, 631/208/205/2138, Biology, 692/699/1503/1502/2071, Bioinformatics, Polymorphism, Single Nucleotide, Genetic pathways, 38/43, Irritable Bowel Syndrome, Cytoskeletal Protein, Genetics, medicine, Genetic predisposition, Aged, Anxiety Disorders, CD56 Antigen, Cell Adhesion Molecules, Cytoskeletal Proteins, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Guanine Nucleotide Exchange Factors, Homeodomain Proteins, Humans, Middle Aged, Molecular Chaperones, Mood Disorders, United Kingdom, Polymorphism, 692/699/476, Irritable bowel syndrome, Depression (differential diagnoses), article, Homeodomain Protein, Single Nucleotide, Guanine Nucleotide Exchange Factor, medicine.disease, Neuroticism, Biobank, Mood, Cell Adhesion Molecule, Anxiety, medicine.symptom, Anxiety Disorder, Human
وصف الملف: application/pdf; ELETTRONICO; application/zip; text/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70d3e63ecdfa51d27cd4c008b5d1360dTest
https://doi.org/10.1038/s41588-021-00950-8Test -
4دورية أكاديمية
المؤلفون: Henström, Maria, Diekmann, Lena, Bonfiglio, Ferdinando, Hadizadeh, Fatemeh, Zheng, Tenghao, Assadi, Ghazaleh, Heine, Martin, Philipp, Ute, Money, Mary E., Belheouane, Meriem, Rafter, Joseph, Nardone, Gerardo, Cuomo, Rosario, Galeazzi, Francesca, Neri, Matteo, Walter, Susanna, Simrén, Magnus, Karling, Pontus, Ohlsson, Bodil, Schmidt, Peter T., Lindberg, Greger, Dlugosz, Aldona, Agreus, Lars, Andreasson, Anna, Mayer, Emeran, Baines, John F., Engstrand, Lars, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Chang, Lin, Camilleri, Michael, Franke, Andre, Naim, Hassan Y., D'Amato, Mauro, Kuech, Eva-Maria, Von Köckritz-Blickwede, Maren, Thingholm, Louise B, DIerks, Claudia, DIstl, Ottmar, Heinsen, Femke-Anouska, Usai-Satta, Paolo, Portincasa, Piero
المساهمون: Henström, Maria, Diekmann, Lena, Bonfiglio, Ferdinando, Hadizadeh, Fatemeh, Zheng, Tenghao, Assadi, Ghazaleh, Heine, Martin, Philipp, Ute, Money, Mary E., Belheouane, Meriem, Rafter, Joseph, Nardone, Gerardo, Cuomo, Rosario, Galeazzi, Francesca, Neri, Matteo, Walter, Susanna, Simrén, Magnu, Karling, Pontu, Ohlsson, Bodil, Schmidt, Peter T., Lindberg, Greger, Dlugosz, Aldona, Agreus, Lar, Andreasson, Anna, Mayer, Emeran, Baines, John F., Engstrand, Lar, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Chang, Lin, Camilleri, Michael, Franke, Andre, Naim, Hassan Y., D'Amato, Mauro, Kuech, Eva-Maria, Von Köckritz-Blickwede, Maren, Thingholm, Louise B, Dierks, Claudia, Distl, Ottmar, Heinsen, Femke-Anouska, Usai-Satta, Paolo, Portincasa, Piero
مصطلحات موضوعية: DIARRHOEA, GENETICS, IRRITABLE BOWEL SYNDROME, POLYMORPHIC VARIATION, Adult, Animal, Carbohydrate Metabolism, Inborn Error, Case-Control Studie, Cell Line, Cell Membrane, DNA Mutational Analysi, Defecation, Diarrhea, Exon, Fece, Female, Gene Dosage, Genotype, Haplorhini, Human, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Risk Factor, Sucrase-Isomaltase Complex, Transfection, Gastroenterology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27872184; info:eu-repo/semantics/altIdentifier/wos/WOS:000419604800011; volume:67; issue:2; firstpage:263; lastpage:270; numberofpages:8; journal:GUT; http://hdl.handle.net/11586/185583Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85006058898; http://gut.bmj.com/content/by/yearTest
الإتاحة: https://doi.org/10.1136/gutjnl-2016-312456Test
http://hdl.handle.net/11586/185583Test
http://gut.bmj.com/content/by/yearTest -
5
المؤلفون: Natalia Trpchevska, Maxim B. Freidin, Linda Broer, Berthe C. Oosterloo, Shuyang Yao, Yitian Zhou, Barbara Vona, Charles Bishop, Argyro Bizaki-Vallaskangas, Barbara Canlon, Fabio Castellana, Daniel I. Chasman, Stacey Cherny, Kaare Christensen, Maria Pina Concas, Adolfo Correa, Ran Elkon, Jonas Mengel-From, Yan Gao, Anne B.S. Giersch, Giorgia Girotto, Alexander Gudjonsson, Vilmundur Gudnason, Nancy L. Heard-Costa, Ronna Hertzano, Jacob v.B. Hjelmborg, Jens Hjerling-Leffler, Howard J. Hoffman, Jaakko Kaprio, Johannes Kettunen, Kristi Krebs, Anna K. Kähler, Francois Lallemend, Lenore J. Launer, I-Min Lee, Hampton Leonard, Chuan-Ming Li, Hubert Lowenheim, Patrik K.E. Magnusson, Joyce van Meurs, Lili Milani, Cynthia C. Morton, Antti Mäkitie, Mike A. Nalls, Giuseppe Giovanni Nardone, Marianne Nygaard, Teemu Palviainen, Sheila Pratt, Nicola Quaranta, Joel Rämö, Elmo Saarentaus, Rodolfo Sardone, Claudia L. Satizabal, John M. Schweinfurth, Sudha Seshadri, Eric Shiroma, Eldad Shulman, Eleanor Simonsick, Christopher Spankovich, Anke Tropitzsch, Volker M. Lauschke, Patrick F. Sullivan, Andre Goedegebure, Christopher R. Cederroth, Frances M.K. Williams, Andries Paul Nagtegaal, Andres Metspalu, Mari Nelis, Reedik Mägi, Tõnu Esko
المساهمون: Tampere University, Clinical Medicine, Department of Otology and Oral Diseases, Institute for Molecular Medicine Finland, HUS Head and Neck Center, Clinicum, Korva-, nenä- ja kurkkutautien klinikka, Genetic Epidemiology, Genomics of Neurological and Neuropsychiatric Disorders, Complex Disease Genetics, Trpchevska, Natalia, Freidin, Maxim B, Broer, Linda, Oosterloo, Berthe C, Yao, Shuyang, Zhou, Yitian, Vona, Barbara, Bishop, Charle, Bizaki-Vallaskangas, Argyro, Canlon, Barbara, Castellana, Fabio, Chasman, Daniel I, Cherny, Stacey, Christensen, Kaare, Concas, Maria Pina, Correa, Adolfo, Elkon, Ran, Mengel-From, Jona, Gao, Yan, Giersch, Anne B S, Girotto, Giorgia, Gudjonsson, Alexander, Gudnason, Vilmundur, Heard-Costa, Nancy L, Hertzano, Ronna, Hjelmborg, Jacob V B, Hjerling-Leffler, Jen, Hoffman, Howard J, Kaprio, Jaakko, Kettunen, Johanne, Krebs, Kristi, Kähler, Anna K, Lallemend, Francoi, Launer, Lenore J, Lee, I-Min, Leonard, Hampton, Li, Chuan-Ming, Lowenheim, Hubert, Magnusson, Patrik K E, van Meurs, Joyce, Milani, Lili, Morton, Cynthia C, Mäkitie, Antti, Nalls, Mike A, Nardone, Giuseppe Giovanni, Nygaard, Marianne, Palviainen, Teemu, Pratt, Sheila, Quaranta, Nicola, Rämö, Joel, Saarentaus, Elmo, Sardone, Rodolfo, Satizabal, Claudia L, Schweinfurth, John M, Seshadri, Sudha, Shiroma, Eric, Shulman, Eldad, Simonsick, Eleanor, Spankovich, Christopher, Tropitzsch, Anke, Lauschke, Volker M, Sullivan, Patrick F, Goedegebure, Andre, Cederroth, Christopher R, Williams, Frances M K, Nagtegaal, Andries Paul, Internal Medicine, Otorhinolaryngology and Head and Neck Surgery
المصدر: Trpchevska, N, Freidin, M B, Broer, L, Oosterloo, B C, Yao, S, Zhou, Y, Vona, B, Bishop, C, Bizaki-vallaskangas, A, Canlon, B, Castellana, F, Chasman, D I, Cherny, S, Christensen, K, Concas, M P, Correa, A, Elkon, R, Mengel-from, J, Gao, Y, Giersch, A B S, Girotto, G, Gudjonsson, A, Gudnason, V, Heard-costa, N L, Hertzano, R, Hjelmborg, J V B, Hjerling-leffler, J, Hoffman, H J, Kaprio, J, Kettunen, J, Krebs, K, Kähler, A K, Lallemend, F, Launer, L J, Lee, I, Leonard, H, Li, C, Lowenheim, H, Magnusson, P K E, Van Meurs, J, Milani, L, Morton, C C, Mäkitie, A, Nalls, M A, Nardone, G G, Nygaard, M, Palviainen, T, Pratt, S, Quaranta, N, Rämö, J, Saarentaus, E, Sardone, R, Satizabal, C L, Schweinfurth, J M, Seshadri, S, Shiroma, E, Shulman, E, Simonsick, E, Spankovich, C, Tropitzsch, A, Lauschke, V M, Sullivan, P F, Goedegebure, A, Cederroth, C R, Williams, F M K, Nagtegaal, A P, Metspalu, A, Nelis, M, Mägi, R & Esko, T 2022, ' Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2022.04.010Test
American Journal of Human Genetics, 109(6), 1077-1091. Cell Press
The American Journal of Human Geneticsمصطلحات موضوعية: basal cells, hair cells, cochlea, spindle cell, ARHL, GWAS, genetics, hearing loss, root cells, spindle cells, stria vascularis, Animals, Cochlea, Genome-Wide Association Study, Humans, Mice, Stria Vascularis, Deafness, Hearing Loss, basal cell, hair cell, Hair-cells, Heritability, otorhinolaryngologic diseases, Genetics, Pathogenicity, Gwas data, Deafne, Ld score regression, Ganglion neurons, Genetics (clinical), Animal, 1184 Genetics, developmental biology, physiology, hearing lo, Stria Vasculari, Inner, 3142 Public health care science, environmental and occupational health, root cell, Differentiation, Degeneration, 3111 Biomedicine, genetic, Noise, Human
وصف الملف: fulltext; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adc091fdf2ade424805f1d22909bade0Test
https://pubmed.ncbi.nlm.nih.gov/35580588Test -
6
المؤلفون: Naama Hirsch, Idit Dahan, Eva D'haene, Matan Avni, Sarah Vergult, Marta Vidal-García, Pamela Magini, Claudio Graziano, Giulia Severi, Elena Bonora, Anna Maria Nardone, Francesco Brancati, Alberto Fernández-Jaén, Olson J. Rory, Benedikt Hallgrímsson, Ramon Y. Birnbaum
المساهمون: Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J, Hallgrímsson, Benedikt, Birnbaum, Ramon Y
المصدر: GENOME RESEARCH
مصطلحات موضوعية: Craniosynostose, Animal, Twist-Related Protein 1, Repressor Protein, TRANSLOCATION, Mice, Polydactyly, Phenotype, Gene Expression Regulation, Histone Deacetylase, Medicine and Health Sciences, Genetics, Genetics (clinical), Human, Nuclear Protein, TISSUE-SPECIFIC ENHANCERS
وصف الملف: application/pdf; ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc3cb705b0bd5bf2ec9d1b137970f325Test
https://hdl.handle.net/11697/197389Test -
7
المؤلفون: Chandandeep Nagi, Hariprasad Thangavel, Mario Giuliano, Lacey E. Dobrolecki, Agostina Nardone, Carmine De Angelis, Meghana V. Trivedi, Michael T. Lewis, Rachel Schiff, Jackie L. Stilwell, C. Kent Osborne, Debashish Sahay, Sina Hedayatpour, Raksha Bhat, Eric P. Kaldjian, Mothaffar F. Rimawi, Arturo Ramirez
المساهمون: Ramirez, A. B., Bhat, R., Sahay, D., De Angelis, C., Thangavel, H., Hedayatpour, S., Dobrolecki, L. E., Nardone, A., Giuliano, M., KHALIL RODRIGUEZ, Nagi, Rimawi, M., Osborne, C. K., Lewis, M. T., Stilwell, J. L., Kaldjian, E. P., Schiff, R., Trivedi, M. V.
المصدر: BMC Cancer
BMC Cancer, Vol 19, Iss 1, Pp 1-10 (2019)مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Cell Separation, Mice, SCID, Metastasis, Antineoplastic Agent, Mice, 0302 clinical medicine, Circulating tumor cell, Breast cancer, Single-cell analysis, Class I Phosphatidylinositol 3-Kinase, medicine.diagnostic_test, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Neoplastic Cells, Circulating, 3. Good health, Patient-derived xenografts, Oncology, 030220 oncology & carcinogenesis, Single-cell analysi, Immunohistochemistry, Keratins, Female, Single-Cell Analysis, Breast Neoplasm, Research Article, Human, Class I Phosphatidylinositol 3-Kinases, Antineoplastic Agents, Breast Neoplasms, Immunofluorescence, lcsh:RC254-282, 03 medical and health sciences, Patient-derived xenograft, Cell Line, Tumor, Genetics, medicine, Biomarkers, Tumor, Animals, Humans, Chemotherapy, Cluster of differentiation, business.industry, Animal, Circulating tumor cells, Leukocyte Common Antigen, Sequence Analysis, DNA, medicine.disease, 030104 developmental biology, Keratin, Cancer cell, Mutation, Cancer research, Leukocyte Common Antigens, business, Neoplasm Transplantation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::688296ce56fe9a1f54200af1da1bcffeTest
http://hdl.handle.net/11588/771300Test -
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المؤلفون: Giovanni Barbara, Yuri A. Saito, Mauro D'Amato, Greger Lindberg, Massimo Bellini, Nicholas J. Talley, Piero Portincasa, Rosario Cuomo, Weronica E. Ek, Cheryl E. Bernard, Gerardo Nardone, Aldona Dlugosz, Arthur Beyder, Pontus Karling, G. Richard Locke, Maria Gazouli, Michael J. Ackerman, Peter T. Schmidt, Bodil Ohlsson, Matteo Neri, Michael Camilleri, David J. Tester, Peter R. Strege, Felicity Enders, Paolo Usai-Satta, Francesca Galeazzi, Gianrico Farrugia, Amelia Mazzone
المساهمون: Beyder, A, Mazzone, A, Strege, Pr, Tester, Dj, Saito, Ya, Bernard, Ce, Enders, Ft, Ek, We, Schmidt, Pt, Dlugosz, A, Lindberg, G, Karling, P, Ohlsson, B, Gazouli, M, Nardone, GERARDO ANTONIO PIO, Cuomo, Rosario, Usai Satta, P, Galeazzi, F, Neri, M, Portincasa, P, Bellini, M, Barbara, G, Camilleri, M, Locke GR, 3rd, Talley, Nj, D'Amato, M, Ackerman, Mj, Farrugia, G., Beyder, Arthur, Mazzone, Amelia, Strege, Peter R, Tester, David J, Saito, Yuri A, Bernard, Cheryl E, Enders, Felicity T, Ek, Weronica E, Schmidt, Peter T, Dlugosz, Aldona, Lindberg, Greger, Karling, Pontu, Ohlsson, Bodil, Gazouli, Maria, Nardone, Gerardo, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Camilleri, Michael, Locke, G Richard, Talley, Nicholas J, D'Amato, Mauro, Ackerman, Michael J, Farrugia, Gianrico
المصدر: Gastroenterology. 146:1659-1668
مصطلحات موضوعية: Male, Proband, Genetics, GI Motility, Polymorphism, Voltage-Gated Sodium Channel, Adolescent, Adult, Aged, Case-Control Studies, Channelopathies, Constipation, DNA Mutational Analysis, Diarrhea, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, HEK293 Cells, Humans, Irritable Bowel Syndrome, Membrane Potentials, Middle Aged, NAV1.5 Voltage-Gated Sodium Channel, Phenotype, Prevalence, Prospective Studies, Risk Factors, Transfection, Voltage-Gated Sodium Channel Blockers, Young Adult, Gastrointestinal Motility, Mutation, Missense, Gastroenterology, Genome-wide association study, Nav1.5, HEK293 Cell, Missense mutation, Irritable bowel syndrome, biology, cardiovascular system, Case-Control Studie, Human, medicine.drug, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Membrane Potential, Article, Channelopathie, DNA Mutational Analysi, Genetic, Mexiletine, Internal medicine, medicine, cardiovascular diseases, Hepatology, business.industry, Risk Factor, Case-control study, medicine.disease, Prospective Studie, Endocrinology, Voltage-Gated Sodium Channel Blocker, Mutation, biology.protein, Missense, business
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de6db4556c406511980f0953168251fTest
https://doi.org/10.1053/j.gastro.2014.02.054Test -
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المؤلفون: Mauro D'Amato, Anna Andreasson, Guy E. Boeckxstaens, Ferdinando Bonfiglio, Mira M. Wouters, Anna Latiano, Gerardo Nardone, Matteo Neri, Francesca Galeazzi, Greger Lindberg, Tenghao Zheng, Lars Agréus, Alexandra Zhernakova, Matthias Hübenthal, Susanna Walter, Emeran A. Mayer, Lin Chang, Luis Bujanda, Massimo Bellini, Daisy Jonkers, Mihai G. Netea, Paolo Usai-Satta, Francesca Bresso, Pontus Karling, Bodil Ohlsson, Rosario Cuomo, Fatemeh Hadizadeh, Giovanni Barbara, Vincent Thijs, Magnus Simrén, Aldona Dlugosz, Michael Camilleri, Piero Portincasa, Koldo Garcia-Etxebarria, Andre Franke, Peter T. Schmidt
المساهمون: Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Interne Geneeskunde, RS: NUTRIM - R2 - Liver and digestive health, Bonfiglio, Ferdinando, Zheng, Tenghao, Garcia-Etxebarria, Koldo, Hadizadeh, Fatemeh, Bujanda, Lui, Bresso, Francesca, Agreus, Lar, Andreasson, Anna, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T., Karling, Pontu, Ohlsson, Bodil, Simren, Magnu, Walter, Susanna, Nardone, Gerardo, Cuomo, Rosario, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Latiano, Anna, Hübenthal, Matthia, Thijs, Vincent, Netea, Mihai G., Jonkers, Daisy, Chang, Lin, Mayer, Emeran A., Wouters, Mira M., Boeckxstaens, Guy, Camilleri, Michael, Franke, Andre, Zhernakova, Alexandra, D'Amato, Mauro
المصدر: Gastroenterology, vol 155, iss 1
Gastroenterology, 155, 1, pp. 168-179
Gastroenterology, 155(1), 168-179. W B SAUNDERS CO-ELSEVIER INC
Gastroenterology, 155, 168-179
Gastroenterology, 155(1), 168-179. Elsevier Saundersمصطلحات موضوعية: 0301 basic medicine, Male, Constipation, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Genome-wide association study, Sex Factor, Bioinformatics, Irritable Bowel Syndrome, 0302 clinical medicine, Genotype, Medicine, 2.1 Biological and endogenous factors, Aetiology, Irritable bowel syndrome, POPULATION, RISK, education.field_of_study, Pain Research, Gastroenterology, Single Nucleotide, Middle Aged, Europe, Medical genetics, 030211 gastroenterology & hepatology, Female, medicine.symptom, Chromosomes, Human, Pair 9, Life Sciences & Biomedicine, Bowel Symptom, Human, Pair 9, United State, Adult, medicine.medical_specialty, GENETICS, Population, Clinical Sciences, Biobank Research, SNP, Single-nucleotide polymorphism, Chromosome 9, Polymorphism, Single Nucleotide, Article, Chromosomes, Paediatrics and Reproductive Medicine, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, AGE, Sex Factors, Genetic, Genetics, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, Polymorphism, education, METAANALYSIS, Bowel Symptoms, Aged, Menarche, Sweden, Science & Technology, Hepatology, Gastroenterology & Hepatology, business.industry, GENDER-RELATED DIFFERENCES, COLONIC TRANSIT, Prevention, Human Genome, Neurosciences, Genetic Variation, medicine.disease, FUNCTIONAL GI DISORDERS, United States, 030104 developmental biology, CHANNELOPATHIES, Self Report, business, Digestive Diseases, Genome-Wide Association Study
وصف الملف: application/pdf; Print-Electronic; STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::094a0c40a4bd743e184799dd00d52791Test
https://escholarship.org/uc/item/625706n2Test -
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المؤلفون: Laura Vallo, Ercole Brunetti, Anna Maria Nardone, Raniero Iraci, Francesca Gullotta, Emanuela Bonifazi, Giuseppe Novelli, Annalisa Botta
المصدر: Clinical Chemistry. 52:319-322
مصطلحات موضوعية: Pathology, Clinical Biochemistry, medicine.disease_cause, Pregnancy, Prenatal Diagnosis, Myotonic Dystrophy, genetics, gene mutation, In Situ Hybridization, In Situ Hybridization, Fluorescence, Mutation, medicine.diagnostic_test, article, Genetic disorder, methodology, interphase, Protein-Serine-Threonine Kinases, trinucleotide, fetus, diagnostic procedure, Female, Chorionic Villi, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, phenotype, prenatal development, Protein Serine-Threonine Kinases, Biology, Myotonic dystrophy, Fluorescence, Myotonin-Protein Kinase, autosomal dominant disorder, protein serine threonine kinase, medicine, Humans, controlled study, human, fluorescence in situ hybridization, Gene, myotonic dystrophy protein kinase, RNA, cell nucleus, chorion villus, human cell, myotonic dystrophy, prenatal diagnosis, trophoblast, female, metabolism, mutation, pregnancy, Cell Nucleus, Biochemistry (medical), Chromosome, medicine.disease, Myotonia, Settore MED/03 - Genetica Medica, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cacb77ca5d0edda85482f270465c46e5Test
https://doi.org/10.1373/clinchem.2005.056283Test