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1دورية أكاديمية
المؤلفون: Maria Clara Bonaglia, Eliana Salvo, Manuela Sironi, Sara Bertuzzo, Edoardo Errichiello, Teresa Mattina, Orsetta Zuffardi
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: FBN1, ROBO2, chromothripsis, complex chromosome rearrangement, intellectual disability, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Maria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, Maria Clara Bonaglia, Francesca Piazza, Pamela Magini, Francesca Antonaros, Giuseppe Ramacieri, Beatrice Vione, Lorenza Vitale, Marco Seri, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan, Maria Caracausi
المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Down syndrome, Partial trisomy 21, Highly restricted Down syndrome critical region, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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3دورية أكاديمية
المؤلفون: Romina Romaniello, Filippo Arrigoni, Patrizia De Salvo, Maria Clara Bonaglia, Elena Panzeri, Maria Teresa Bassi, Cecilia Parazzini, Andrea Righini, Renato Borgatti
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 12, Pp 2280-2288 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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4دورية أكاديمية
المؤلفون: Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi, Marco Fichera
المصدر: Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: Phelan-McDermid syndrome, SHANK3, RYR2, Reciprocal translocation, Balanced rearrangements, Next-generation sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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5
المؤلفون: Martina Miceli, Pinella Failla, Lucia Saccuzzo, Ornella Galesi, Silvestra Amata, Corrado Romano, Maria Clara Bonaglia, Marco Fichera
مصطلحات موضوعية: Neurodevelopmental delay, Genetics, 2p15p16.1 microdeletion syndrome, Epistasis, Additive effect, Penetrance, Molecular Biology, Biochemistry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f60b69575748638c897b6e22d07501f9
https://hdl.handle.net/20.500.11769/550889 -
6
المؤلفون: Andrea Righini, Renato Borgatti, Filippo Arrigoni, Maria Teresa Bassi, Elena Panzeri, Patrizia De Salvo, Cecilia Parazzini, Romina Romaniello, Maria Clara Bonaglia
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 12, Pp 2280-2288 (2021)
Annals of Clinical and Translational Neurologyمصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Prenatal diagnosis, Neurosciences. Biological psychiatry. Neuropsychiatry, Behavioral Symptoms, Corpus callosum, Fetus, Borderline intellectual functioning, Pregnancy, Intellectual Disability, Prenatal Diagnosis, Intellectual disability, medicine, Humans, Child, RC346-429, Research Articles, Retrospective Studies, business.industry, Corpus Callosum Agenesis, General Neuroscience, Neuropsychology, medicine.disease, Executive functions, Magnetic Resonance Imaging, Neurodevelopmental Disorders, Child, Preschool, Agenesis, Female, Neurology (clinical), Neurology. Diseases of the nervous system, Agenesis of Corpus Callosum, business, Research Article, Follow-Up Studies, RC321-571
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7
المصدر: SSRN Electronic Journal.
مصطلحات موضوعية: History, Polymers and Plastics, Chromosome Disorders, Genotype-phenotype, Dicentric chromosome, Chromosomes, Industrial and Manufacturing Engineering, Cell Line, Pregnancy, Genetics, Humans, Business and International Management, Genetics (clinical), Pair 18, 18q deletion, Mosaicism, Inverted duplication deletion, General Medicine, Trisomy 18, Coloboma, Dacarbazine, Chromosome Inversion, Female, Chromosome Deletion, Chromosomes, Human, Pair 18, Human
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff17aa8d962c23e087ac3972cbf7f406
https://doi.org/10.2139/ssrn.4149502 -
8
المؤلفون: Veronica Bertini, Clara Bonaglia, Alessandro Orsini, Alice Bonuccelli, Cecilia Giuliani, Maria Immacolata Ferreri, Angelo Valetto, Diego Peroni
المصدر: The Journal of Maternal-Fetal & Neonatal Medicine. :1-5
مصطلحات موضوعية: Chromosome Aberrations, Genetic Markers, Genetics, Chromosomes, Human, Pair 13, business.industry, Obstetrics and Gynecology, Chromosomes, Pregnancy, Cytogenetic Analysis, Pediatrics, Perinatology and Child Health, Humans, Medicine, Fish
, Female, Supernumerary, business -
9
المؤلفون: Romina Romaniello, Renato Borgatti, Lorenzo Pinelli, Elena Panzeri, Bosanka Jocic-Jakubi, Filippo Arrigoni, Filippo Manti, Caterina Caputi, Anna Pichiecchio, Andrea Righini, Valentina Serpieri, Elisabetta Lucarelli, Maria Clara Bonaglia, Enza Maria Valente, Vincenzo Leuzzi, Luisa Chiapparini, Fulvio D’Abrusco
المصدر: Cerebellum (London, England). 21(6)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ataxia, Joubert syndrome, Retina, Neuroimaging, Cerebellum, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Diagnostic Errors, Child, Exome sequencing, Genetic testing, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Diagnostic yield, Misdiagnosis, Molar tooth sign, NGS, Poretti-Boltshauser syndrome, Kidney Diseases, Cystic, medicine.disease, Hypotonia, Ciliopathy, Neurology, Neurology (clinical), medicine.symptom, business
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10
المؤلفون: Maria Clara Bonaglia, Marco Fichera, Orsetta Zuffardi
المصدر: European Journal of Medical Genetics. 65:104532
مصطلحات موضوعية: Chromosome Aberrations, Male, Mosaicism, Zygote, Mirror dicentric chromosomes, Segmental uniparental disomy, Inv-dup del, Chromosome Disorders, General Medicine, Telomere, Distal deletions, Clonal selection, Pregnancy, Chromosome Inversion, Genetics, Humans, Female, Chromosome Deletion, Genetics (clinical)