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المؤلفون: Britta Weigelt, Resel Pereira, C. Kent Osborne, Rinath Jeselsohn, Jiangang Liu, Vidyalakshmi Sethunath, Jamunarani Veeraraghavan, Rachel Schiff, Lanfang Qin, Luca Malorni, Pier Selenica, Carmine De Angelis, Xiaoyong Fu, Ilenia Migliaccio, David N Brown, Susan G. Hilsenbeck, Sarmistha Nanda, Joshua Donaldson, Valerie M. Jansen, Sara A. Hurvitz, Agostina Nardone, Dennis J. Slamon, Ben Ho Park, Tao Wang, Jorge S. Reis-Filho, Lacey M. Litchfield, C. Guarducci, Matteo Benelli, Maria Letizia Cataldo, Mothaffar F. Rimawi
المساهمون: De Angelis, C., Fu, X., Cataldo, M. L., Nardone, A., Pereira, R., Veeraraghavan, J., Nanda, S., Qin, L., Sethunath, V., Wang, T., Hilsenbeck, S. G., Benelli, M., Migliaccio, I., Guarducci, C., Malorni, L., Litchfield, L. M., Liu, J., Donaldson, J., Selenica, P., Brown, D. N., Weigelt, B., Reis-Filho, J. S., Park, B. H., Hurvitz, S. A., Slamon, D. J., Rimawi, M. F., Jansen, V. M., Jeselsohn, R., Osborne, C. K., Schiff, R.
المصدر: Clinical cancer research : an official journal of the American Association for Cancer Research, vol 27, iss 17
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Pyridines, Oncology and Carcinogenesis, Estrogen receptor, Antineoplastic Agents, Breast Neoplasms, Palbociclib, Piperazines, 03 medical and health sciences, 0302 clinical medicine, Immune system, Breast cancer, Receptors, Breast Cancer, Genetics, Tumor Cells, Cultured, Humans, Medicine, Oncology & Carcinogenesis, Cancer, Cultured, biology, business.industry, Kinase, Cyclin-Dependent Kinase 4, Cyclin-Dependent Kinase 6, medicine.disease, Estrogen, Immune checkpoint, Tumor Cells, Good Health and Well Being, 030104 developmental biology, Receptors, Estrogen, Oncology, 5.1 Pharmaceuticals, 030220 oncology & carcinogenesis, biology.protein, Cancer research, Female, Cyclin-dependent kinase 6, Development of treatments and therapeutic interventions, Signal transduction, business, Signal Transduction
وصف الملف: application/pdf
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https://doi.org/10.1158/1078-0432.ccr-19-4191Test -
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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 -
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المؤلفون: Diana Postorivo, Barbara Torres, Matteo Della Monica, Antonio Novelli, Anna Maria Nardone, Laura Bernardini, Francesca Clementina Radio, Bruno Dallapiccola, Cristina Gorgone, Gioacchino Scarano, Teresa Mattina, Claudia Cesario, Fabio Acquaviva, Monia Magliozzi, Viola Alesi, Fortunato Lonardo, Maria Cristina Digilio
المصدر: American Journal of Medical Genetics Part A. 176:2501-2508
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, Candidate gene, 030105 genetics & heredity, Bioinformatics, Pathogenesis, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Craniofacial, Gene, Wolf–Hirschhorn syndrome, Genetics (clinical), Psychomotor learning, business.industry, Infant, Newborn, Infant, medicine.disease, Child, Preschool, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc38b4b0575bf6d38b6a87c9e93087bTest
https://doi.org/10.1002/ajmg.a.40512Test -
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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: Serena Redaelli, Annamaria Montaldi, Francesca Crosti, Marzia Giagnacovo, Maria Paola Recalcati, Chiara Palka, Carlo Ceglia, Lidia Larizza, Caterina Ceccarini, Chiara Rigon, Anna Maria Nardone, Antonio Novelli, Domenico Coviello, Stefania Cappellani, Alessandra Renieri, Anna Maria Ciaschini, Alberta Alghisi, Ilaria Catusi, Daniela Zuccarello, Vanna Pecile, Mariella Tonelli, Paola Granata, Ilaria Bestetti, Ilaria Longo, Giuseppina Marseglia, Nicoletta Villa, Chiara Pessina, Michela Malacarne, Fabiola Tiberi, Chiara Valtorta, Melissa Alfonsi, Anna Zilio, Maria Garzo, Rossella Caselli, Annamaria D'Aprile, Daniela Giardino, Rosario Casalone, Diana Postorivo, Rita Genesio, Antonella Fabretto
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)مصطلحات موضوعية: 0301 basic medicine, detection rate, medicine.medical_specialty, lcsh:QH426-470, DNA Copy Number Variations, Developmental Disabilities, Genetics, Medical, 030105 genetics & heredity, Sensitivity and Specificity, Chromosomal microarray analysis (CMA), pathogenic CNV, 03 medical and health sciences, clinical marker identification, Internal medicine, Genetics, medicine, Humans, Genetic Testing, Copy-number variation, Molecular Biology, Societies, Medical, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Chromosome Aberrations, business.industry, Microarray analysis techniques, Retrospective cohort study, Congenital malformations, Original Articles, Phenotype, Human genetics, lcsh:Genetics, 030104 developmental biology, Italy, Practice Guidelines as Topic, Original Article, Detection rate, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4b6658258edd9595ab4d3e15be67e45Test
https://doi.org/10.1002/mgg3.1056Test -
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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
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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
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https://escholarship.org/uc/item/625706n2Test -
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المؤلفون: Maria Iascone, Diana Postorivo, Michele Pinelli, Maria Teresa Falco, Maria Elena Sana, Fabio Acquaviva, Anna Maria Nardone, Paolo Fontana, Matteo Della Monica, Fortunato Lonardo, Gioacchino Scarano
المصدر: American Journal of Medical Genetics Part A. 173:231-238
مصطلحات موضوعية: Adult, 0301 basic medicine, Offspring, Retinoic acid induced 1, media_common.quotation_subject, Genetic counseling, Mothers, 030105 genetics & heredity, Nuclear Family, Frameshift mutation, 03 medical and health sciences, Genetics, Humans, Medicine, Exome, Child, Genetic Association Studies, Genetics (clinical), Exome sequencing, media_common, Comparative Genomic Hybridization, Daughter, business.industry, Intracellular Signaling Peptides and Proteins, Genetic disorder, Facies, High-Throughput Nucleotide Sequencing, Reproducibility of Results, medicine.disease, Smith–Magenis syndrome, Pedigree, Repressor Proteins, Phenotype, 030104 developmental biology, Mutation, Female, Smith-Magenis Syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e4f7284b6b21ac2cb25ed2cda4a3d1Test
https://doi.org/10.1002/ajmg.a.37989Test -
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المؤلفون: Eugen Trinka, Leopold Saltuari, Stefan Golaszewski, Raffaele Nardone, Francesco Brigo, Luca Sebastianelli, Yvonne Höller, Vanessa N. Frey, Piergiorgio Lochner, Viviana Versace
المصدر: Disease Markers, Vol 2018 (2018)
مصطلحات موضوعية: diagnosis, Clinical Biochemistry, Alzheimer’s disease (AD), Disease, Electroencephalography, 050105 experimental psychology, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, Genetics, Medicine, Humans, 0501 psychology and cognitive sciences, Spectral analysis, EEG, Cognitive impairment, Molecular Biology, Group level, lcsh:R5-920, medicine.diagnostic_test, business.industry, Functional connectivity, 05 social sciences, Biochemistry (medical), frontotemporal dementia (FTD), clinical distinction, General Medicine, medicine.disease, Frontotemporal Dementia, EEG Findings, lcsh:Medicine (General), business, Neuroscience, 030217 neurology & neurosurgery, Frontotemporal dementia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09cfe2d92b6a0802430f49e2870c4267Test
http://hdl.handle.net/11562/985818Test