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1دورية أكاديمية
المؤلفون: Monica Mazzucato, Laura Visonà Dalla Pozza, Paola Facchin, Cèline Angin, Francis Agius, Clara Cavero-Carbonell, Virginia Corrochano, Katerina Hanusova, Kurt Kirch, Deborah Lambert, Caterina Lucano, Sylvie Maiella, Monica Panzaru, Cristina Rusu, Stefanie Weber, Oscar Zurriaga, Miroslav Zvolsky, Ana Rath
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
مصطلحات موضوعية: Rare diseases, Coding, Diagnoses, Orphanet, ORPHAcodes, ICD-10, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101476- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424006228Test; https://doaj.org/toc/2949-7744Test
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3دورية أكاديمية
المؤلفون: Benedetta Pozzi, Stefania Amodio, Caterina Lucano, Anna Sciullo, Simona Ronzoni, Daniela Castelletti, Thure Adler, Irina Treise, Ingrid Holmberg Betsholtz, Birgit Rathkolb, Dirk H. Busch, Eckhard Wolf, Helmut Fuchs, Valérie Gailus-Durner, Martin Hrabě de Angelis, Christer Betsholtz, Stefano Casola, Pier Paolo Di Fiore, Nina Offenhäuser
المصدر: PLoS ONE, Vol 8, Iss 5 (2013)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Benedetta Pozzi, Stefania Amodio, Caterina Lucano, Anna Sciullo, Simona Ronzoni, Daniela Castelletti, Thure Adler, Irina Treise, Ingrid Holmberg Betsholtz, Birgit Rathkolb, Dirk H Busch, Eckhard Wolf, Helmut Fuchs, Valérie Gailus-Durner, Martin Hrabě de Angelis, Christer Betsholtz, Stefano Casola, Pier Paolo Di Fiore, Nina Offenhäuser
المصدر: PLoS ONE, Vol 7, Iss 11, p e50818 (2012)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3511280?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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5دورية أكاديمية
المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert BA de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson
مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, Uncategorised value
العلاقة: 10779/DRO/DU:24562858.v1; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858Test
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المؤلفون: Francesca Ferrua, Maria Ester Bernardo, Maria Pia Cicalese, Francesca Tucci, Federica Barzaghi, Giulia Consiglieri, Jonathan Appleby, Daniele Canarutto, Francesco Calzatini, Michela Gabaldo, Silvia Darin, Francesca Dionisio, Caterina Lucano, Sarah Marktel, Maddalena Migliavacca, Enza Cestone, Miriam Casiraghi, Renato Finazzi, Giorgina Mieli-Vergani, Dalia Abd Elaziz, Salvatore Recupero, Valeria Calbi, Alessandro Aiuti, Fabio Ciceri, Enzo Boeri
المساهمون: Tucci, Francesca, Calbi, Valeria, Barzaghi, Federica, Migliavacca, Maddalena, Ferrua, Francesca, Bernardo, Maria Ester, Canarutto, Daniele, Consiglieri, Giulia, Recupero, Salvatore, Calzatini, Francesco, Gabaldo, Michela, Lucano, Caterina, Casiraghi, Miriam, Darin, Silvia, Dionisio, Francesca, Marktel, Sarah, Cestone, Enza, Finazzi, Renato, Mieli-Vergani, Giorgina, Boeri, Enzo, Appleby, Jonathan, Elaziz, Dalia Abd, Ciceri, Fabio, Aiuti, Alessandro, Cicalese, Maria Pia
المصدر: Hepatology (Baltimore, Md.)
مصطلحات موضوعية: 0301 basic medicine, Male, Strimvelis, Adenosine Deaminase, Genetic enhancement, Antiviral Agents, Clinical Observations in Hepatology, 03 medical and health sciences, 0302 clinical medicine, Agammaglobulinemia, medicine, Humans, Severe combined immunodeficiency, Fluorenes, Hepatology, business.industry, Infant, Genetic Therapy, medicine.disease, Virology, Hepatitis C, Adenosine deaminase deficiency, 030104 developmental biology, LEDIPASVIR/SOFOSBUVIR, 030211 gastroenterology & hepatology, Benzimidazoles, Severe Combined Immunodeficiency, Sofosbuvir, business, Uridine Monophosphate
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c1d618021d0966c3092bcae2159b70cTest
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7
المؤلفون: Caterina Lucano, Vincenzo Costanzo, Mattia Forcato, Alessandra Rustighi, Fabrizio d'Adda di Fagagna, Silvio Bicciato, Jelena Vermezovic, Marek Adamowicz, Libero Santarpia, Lucia Massimiliano, Giannino Del Sal
المساهمون: Vermezovic, Jelena, Adamowicz, Marek, Santarpia, Libero, Rustighi, Alessandra, Forcato, Mattia, Lucano, Caterina, Massimiliano, Lucia, Costanzo, Vincenzo, Bicciato, Silvio, Del Sal, Giannino, D'ADDA DI FAGAGNA, Fabrizio
المصدر: Nature structuralmolecular biology. 22(5)
مصطلحات موضوعية: Animals, Apoptosis, Ataxia Telangiectasia Mutated Proteins, Binding Sites, Caenorhabditis elegans, Cell Line, Tumor, DNA Damage, DNA Repair, DNA-Binding Proteins, Enzyme Activation, HEK293 Cells, HeLa Cells, Humans, Multiprotein Complexes, Neoplasms, Protein Binding, Protein Structure, Tertiary, Receptor, Notch1, Signal Transduction, Transcription, Genetic, Xenopus laevis, Xenopus, HeLa Cell, Ataxia Telangiectasia Mutated Protein, HEK293 Cell, Structural Biology, Molecular Biology, Medicine (all), hemic and lymphatic diseases, Caenorhabditis elegan, Tumor, biology, Cell biology, embryonic structures, cardiovascular system, biological phenomena, cell phenomena, and immunity, Signal transduction, Transcription, Receptor, Human, Protein Structure, DNA damage, DNA repair, DNA-Binding Protein, Notch signaling pathway, Cell Line, Genetic, Notch1, Animal, HEK 293 cells, Binding Site, Apoptosi, biology.organism_classification, Multiprotein Complexe, Neoplasm, sense organs, Tertiary
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::421d1f91574f02b4be19fe4a09510557Test
https://pubmed.ncbi.nlm.nih.gov/25895060Test -
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المؤلفون: Martin Hrabě de Angelis, Caterina Lucano, Helmut Fuchs, Valerie Gailus-Durner, Christer Betsholtz, Dirk H. Busch, Pier Paolo Di Fiore, Ingrid Holmberg Betsholtz, Eckhard Wolf, Anna Sciullo, Simona Ronzoni, Birgit Rathkolb, Benedetta Pozzi, Stefania Amodio, Stefano Casola, Nina Offenhäuser, Irina Treise, Thure Adler, Daniela Castelletti
المصدر: PLoS ONE, Vol 8, Iss 5 (2013)
PLoS ONEمصطلحات موضوعية: Multidisciplinary, Science, lcsh:R, Endocytic cycle, Correction, lcsh:Medicine, Signal transducing adaptor protein, Biology, Clathrin, Cell biology, medicine.anatomical_structure, Immunology, Marginal zone B-cell, medicine, biology.protein, Medicine, Synaptic vesicle recycling, lcsh:Q, Bone marrow, Lymphopoiesis, lcsh:Science, B cell
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f0f1fdf2e81a4e3b7e6746e872f696fTest
https://doi.org/10.1371/annotation/9c1c760a-8477-499d-a194-5ed87ffa6c6aTest -
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المؤلفون: Ingrid Holmberg Betsholtz, Benedetta Pozzi, Nina Offenhäuser, Anna Sciullo, Simona Ronzoni, Irina Treise, Daniela Castelletti, Helmut Fuchs, Thure Adler, Eckhard Wolf, Stefano Casola, Caterina Lucano, Martin Hrabě de Angelis, Pier Paolo Di Fiore, Dirk H. Busch, Stefania Amodio, Birgit Rathkolb, Valerie Gailus-Durner, Christer Betsholtz
المصدر: PLoS ONE, Vol 7, Iss 11, p e50818 (2012)
PLoS ONE
PLoS ONE 7:e50818 (2012)مصطلحات موضوعية: Male, B Cells, Mouse, Endocytic cycle, Gene Expression, lcsh:Medicine, Cell Count, Gene Knockout Techniques, Mice, 0302 clinical medicine, Marginal zone B-cell, Molecular Cell Biology, Lymphoid Organs, lcsh:Science, Bone Marrow Transplantation, 0303 health sciences, B-Lymphocytes, Multidisciplinary, Receptors, Notch, Signal transducing adaptor protein, Animal Models, Endocytosis, Cell biology, medicine.anatomical_structure, Medicine, Female, Research Article, Immune Cells, Immunology, Bone Marrow Cells, Thymus Gland, Biology, Clathrin, 03 medical and health sciences, Model Organisms, medicine, Genetics, Synaptic vesicle recycling, Animals, Lymphopoiesis, B cell, 030304 developmental biology, Adaptor Proteins, Signal Transducing, lcsh:R, Immune System, biology.protein, Clinical Immunology, lcsh:Q, Bone marrow, Gene Function, 030215 immunology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efae317ba998013a40a48a76f78cc7c7Test
http://europepmc.org/articles/PMC3511280?pdf=renderTest -
10دورية أكاديمية
المؤلفون: Benedetta Pozzi, Stefania Amodio, Caterina Lucano, Anna Sciullo, Simona Ronzoni, Daniela Castelletti, Thure Adler, Irina Treise, Ingrid Holmberg Betsholtz, Birgit Rathkolb, Dirk H. Busch, Eckhard Wolf, Helmut Fuchs, Martin Hrabe ̌ De Angelis, Christer Betsholtz, Stefano Casola, Pier Paolo, Di Fiore
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf