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1دورية أكاديمية
المؤلفون: Nardone, Giuseppe Giovanni, Spedicati, Beatrice, Concas, Maria Pina, Santin, Aurora, Morgan, Anna, Mazzetto, Lorenzo, Battaglia-Parodi, Maurizio, Girotto, Giorgia
المساهمون: Ministero dell'Università e della Ricerca
المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine
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2دورية أكاديمية
المؤلفون: Trpchevska, Natalia, Freidin, Maxim B., Broer, Linda, Oosterloo, Berthe C., Yao, Shuyang, Zhou, Yitian, Vona, Barbara, Bishop, Charles, Bizaki-Vallaskangas, Argyro, Canlon, Barbara, Castellana, Fabio, Chasman, Daniel I., Cherny, Stacey, Christensen, Kaare, Concas, Maria Pina, Correa, Adolfo, Elkon, Ran, Mengel-From, Jonas, Gao, Yan, Giersch, Anne B.S., Girotto, Giorgia, Gudjonsson, Alexander, Gudnason, Vilmundur, Heard-Costa, Nancy L., Hertzano, Ronna, Hjelmborg, Jacob v.B., Hjerling-Leffler, Jens, Hoffman, Howard J., Kaprio, Jaakko, Kettunen, Johannes, Krebs, Kristi, Kähler, Anna K., Lallemend, Francois, 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
المصدر: The American Journal of Human Genetics ; volume 109, issue 6, page 1077-1091 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2022.04.010Test
https://api.elsevier.com/content/article/PII:S0002929722001586?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929722001586?httpAccept=text/plainTest -
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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 -
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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 -
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المؤلفون: Beatrice Spedicati, Anna Morgan, Giulia Pianigiani, Luciana Musante, Elisa Rubinato, Aurora Santin, Giuseppe Giovanni Nardone, Flavio Faletra, Giorgia Girotto
المساهمون: Spedicati, Beatrice, Morgan, Anna, Pianigiani, Giulia, Musante, Luciana, Rubinato, Elisa, Santin, Aurora, Nardone, Giuseppe Giovanni, Faletra, Flavio, Girotto, Giorgia
المصدر: Genes; Volume 13; Issue 11; Pages: 2023
مصطلحات موضوعية: Dual molecular diagnosis, Multifactorial Inheritance, Phenotype, Multilocus genomic variation, Whole Exome Sequencing, dual molecular diagnosis, multilocus genomic variation, whole exome sequencing, Genetics, Family, Genomics, Genetics (clinical), Dual molecular diagnosi
وصف الملف: ELETTRONICO; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3424c2cc6c8c88b70eb9457cab761719Test
https://hdl.handle.net/11368/3034240Test -
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المؤلفون: Antonino Zito, Amy L. Roberts, Alessia Visconti, Niccolo’ Rossi, Rosa Andres-Ejarque, Stefano Nardone, Julia S. El-Sayed Moustafa, Mario Falchi, Kerrin S. Small
المصدر: PLOS Genetics. 19:e1010556
مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eacc964728668743447b0c20ff4f6effTest
https://doi.org/10.1371/journal.pgen.1010556Test -
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المؤلفون: Caterina Ceccarini, Valentina Imperatore, Stefania Troiani, Monia Magliozzi, Anna Maria Nardone, Amedea Mencarelli, Paolo Prontera, Antonio Novelli, Fortunato Lonardo, Daniela Rogaia, Maria Cristina Digilio, Maria Teresa Falco, Carla Cesarano, Marco Seri, Maria Giovanna Tedesco, Paolo Fontana, Chiara Leoni, Carmelo Piscopo
المصدر: American Journal of Medical Genetics Part A. 185:1204-1210
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Microcephaly, medicine.diagnostic_test, business.industry, 030105 genetics & heredity, medicine.disease, Short stature, GNAO1, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, Mutation (genetic algorithm), Genetics, Feingold syndrome, Medicine, Syndactyly, medicine.symptom, business, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::55c5aeabe085e4ff8dea9ed8eab51a2cTest
https://doi.org/10.1002/ajmg.a.62068Test -
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المؤلفون: Letizia Camerota, Antonio Suppa, Luís Pires, Susana Isabel Ferreira, Cinzia Galasso, Anna Maria Nardone, Isabel M. Carreira, Fernando De Maio, Francesco Brancati, Silvia Lanciotti, Lina Ramos, Joana B. Melo, Giacomo Cinnirella
المصدر: American Journal of Medical Genetics Part A. 182:2694-2698
مصطلحات موضوعية: 0301 basic medicine, 030105 genetics & heredity, Bioinformatics, Settore MED/05, Short stature, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Precocious puberty, NPR2, Genetics (clinical), business.industry, Chromosome, 9p13 deletion syndrome, medicine.disease, tremor, Phenotype, myoclonus, 030104 developmental biology, Feature (computer vision), medicine.symptom, business, Myoclonus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::840c5cdaab9e75e5a8a31159a01e62f6Test
https://doi.org/10.1002/ajmg.a.61807Test -
9دورية أكاديمية
المؤلفون: Piccolo, Pasquale, Attanasio, Sergio, Secco, Ilaria, Sangermano, Riccardo, Strisciuglio, Caterina, Limongelli, Giuseppe, Miele, Erasmo, Mutarelli, Margherita, Banfi, Sandro, Nigro, Vincenzo, Pons, Tirso, Valencia, Alfonso, Zentilin, Lorena, Campione, Severo, Nardone, Gerardo, Lynnes, Ty C., Celestino-Soper, Patricia B.S., Spoonamore, Katherine G., D’Armiento, Francesco P., Giacca, Mauro, Staiano, Annamaria, Vatta, Matteo, Collesi, Chiara, Brunetti-Pierri, Nicola
المصدر: Human Molecular Genetics ; page ddw365 ; ISSN 0964-6906 1460-2083
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine
الإتاحة: https://doi.org/10.1093/hmg/ddw365Test
http://academic.oup.com/hmg/article-pdf/26/1/33/11007317/ddw365.pdfTest -
10دورية أكاديمية
المؤلفون: D’Apice, Maria Rosaria, Novelli, Antonio, di Masi, Alessandra, Biancolella, Michela, Antoccia, Antonio, Gullotta, Francesca, Licata, Norma, Minella, Daniela, Testa, Barbara, Nardone, Anna Maria, Palmieri, Giampiero, Calabrese, Emma, Biancone, Livia, Tanzarella, Caterina, Frontali, Marina, Sangiuolo, Federica, Novelli, Giuseppe, Pallone, Francesco
المصدر: BMC Medical Genetics ; volume 16, issue 1 ; ISSN 1471-2350
مصطلحات موضوعية: Genetics (clinical), Genetics