-
1دورية أكاديمية
المؤلفون: Robertino Dilena, Eleonora Mauri, Alessio Di Fonzo, Cristina Bana, Paola Francesca Ajmone, Claudia Rigamonti, Tamara Catenio, Silvana Gangi, Pasquale Striano, Monica Fumagalli
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: KCNQ2, SCN2A, self-limited neonatal epilepsy, carbamazepine (CBZ), developmental and epileptic encephalopathy (DEE), EEG, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
-
2
المؤلفون: Alessandra Provera, Paola Zanchi, Gaia Silibello, Francesca Dall’Ara, Claudia Rigamonti, Federico Monti, Paola Francesca Ajmone, Faustina Lalatta, Maria Antonella Costantino, Paola Giovanna Vizziello, Laura Zampini
المساهمون: Provera, A, Zanchi, P, Silibello, G, Dall'Ara, F, Rigamonti, C, Monti, F, Ajmone, P, Lalatta, F, Costantino, M, Vizziello, P, Zampini, L
المصدر: First Language. 42:613-627
مصطلحات موضوعية: Child-directed speech, Linguistics and Language, prosodic features, Settore M-PSI/04 - PSICOLOGIA DELLO SVILUPPO E PSICOLOGIA DELL'EDUCAZIONE, prosodic feature, sex chromosome trisomie, genetic syndrome, sex chromosome trisomies, language delay, Language and Linguistics, Education
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e15c5acff63e437b566404f9ad3f3492
https://doi.org/10.1177/01427237221098553 -
3
المؤلفون: Angelo Selicorni, Francesca Dall'Ara, Anna Cereda, Milena Mariani, Maria Antonella Costantino, Paola Francesca Ajmone, Giovanni Michelini, Beatrice Allegri, Claudia Rigamonti, Paola Vizziello
المصدر: Journal of Autism and Developmental Disorders. 52:4763-4773
مصطلحات موضوعية: Cornelia de Lange Syndrome, Genotype, Autism Spectrum Disorder, Cell Cycle Proteins, NIPBL, medicine.disease, behavioral disciplines and activities, Phenotype, Correlation, Borderline intellectual functioning, Autism spectrum disorder, De Lange Syndrome, mental disorders, Developmental and Educational Psychology, medicine, Humans, Autism, Psychology, Clinical psychology
-
4
المؤلفون: Paola Francesca Ajmone, Ludovica Giani, Beatrice Allegri, Giovanni Michelini, Francesca Dall'Ara, Claudia Rigamonti, Federico Monti, Paola Giovanna Vizziello, Angelo Selicorni, Donatella Milani, Simona Scaini, Antonella Costantino
المصدر: American journal of medical genetics. Part AREFERENCES.
مصطلحات موضوعية: Genetics, Genetics (clinical)
-
5
المؤلفون: Paola Vizziello, Laura Zampini, Francesca Dall'Ara, Faustina Lalatta, Maria Antonella Costantino, Federico Monti, Claudia Rigamonti, Gaia Silibello, Paola Francesca Ajmone
المساهمون: Zampini, L, Dall'Ara, F, Silibello, G, Ajmone, P, Monti, F, Rigamonti, C, Lalatta, F, Costantino, M, Vizziello, P
المصدر: Children's Health Care. 50:324-337
مصطلحات موضوعية: prenatal diagnosi, Pediatrics, medicine.medical_specialty, business.industry, 05 social sciences, Prenatal diagnosis, medicine.disease, parent, 03 medical and health sciences, Clinical Psychology, 0302 clinical medicine, XXY, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Developmental and Educational Psychology, medicine, Diagnosis disclosure, 0501 psychology and cognitive sciences, Klinefelter syndrome, business, 050104 developmental & child psychology
وصف الملف: STAMPA
-
6
المؤلفون: Paola Zanchi, Laura Zampini, Paola Vizziello, Claudia Rigamonti, Francesca Dall'Ara, Federico Monti, Maria Antonella Costantino, Elena Capelli, Gaia Silibello, Paola Francesca Ajmone, Tiziana Burla, Faustina Lalatta
المساهمون: Zampini, L, Burla, T, Silibello, G, Capelli, E, Dall'Ara, F, Rigamonti, C, Ajmone, P, Monti, F, Zanchi, P, Lalatta, F, Costantino, M, Vizziello, P
المصدر: First Language. 41:200-217
مصطلحات موضوعية: Linguistics and Language, Pediatrics, medicine.medical_specialty, XYY syndrome, business.industry, Chromosome, predictor, Triple X syndrome, medicine.disease, babbling, Language and Linguistics, Babbling, Education, Language development, Increased risk, Preverbal, Medicine, triple X syndrome, Klinefelter syndrome, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5ea3099f04cbe1583c1a60b027a2028
https://doi.org/10.1177/0142723720962944 -
7
المؤلفون: Francesca Dall'Ara, Gaia Silibello, Claudia Rigamonti, Paola Francesca Ajmone, Paola Vizziello, Laura Zampini, Federico Monti, Alessandra Lorini, Maria Antonella Costantino, Faustina Lalatta
المساهمون: Lorini, A, Zampini, L, Silibello, G, Dall'Ara, F, Rigamonti, C, Ajmone, P, Monti, F, Lalatta, F, Costantino, M, Vizziello, P
مصطلحات موضوعية: Adolescent, Prenatal counseling, psychomotor development, Population, Mothers, Trisomy, Dysfunctional family, Developmental psychology, Maternal stress, maternal parenting stre, Developmental and Educational Psychology, Humans, education, Problem Behavior, Psychomotor learning, education.field_of_study, Sex Chromosomes, Parenting, Infant, Parenting stress, sex chromosome trisomie, Linguistic competence, Psychiatry and Mental health, Language development, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Psychology, behavioral problem, Stress, Psychological, language development
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b5f6c184a382ec7daf11fa048d57c9a
http://hdl.handle.net/10281/332571 -
8
المؤلفون: Giulia Zamprogna, Anna Maria Frustaci, Marina Deodato, Heather Allewelt, Dirk Weber, Claudia Rigamonti, Alessandra Tedeschi
المصدر: Journal of Cancer Science and Clinical Therapeutics.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::27be635822dc087ed188a5cba7c2b3c5
https://doi.org/10.26502/jcsct.5079151 -
9
المؤلفون: Claudia Rigamonti, Paola Vizziello, Francesca Dall'Ara, Faustina Lalatta, Maria Antonella Costantino, Laura Zampini, Camilla Ferrante, Paola Zanchi, Gaia Silibello
المساهمون: Zampini, L, Ferrante, C, Silibello, G, Dall'Ara, F, Rigamonti, C, Zanchi, P, Vizziello, P, Lalatta, F, Costantino, M
المصدر: International Journal of Language & Communication Disorders. 55:724-733
مصطلحات موضوعية: Adult, Male, child-directed speech, 030506 rehabilitation, Linguistics and Language, Genetic syndromes, Language delay, Functional features, Sex Chromosome Disorders, Trisomy, Language and Linguistics, Developmental psychology, Style (sociolinguistics), 030507 speech-language pathology & audiology, 03 medical and health sciences, Speech and Hearing, Typically developing, Humans, Language Development Disorders, genetic syndrome, Maternal Behavior, language delay, Communication, Neuropsychology, Infant, Linguistics, sex chromosome trisomie, functional feature, functional features, sex chromosome trisomies, Mother-Child Relations, Language development, Settore M-PSI/04 - PSICOLOGIA DELLO SVILUPPO E PSICOLOGIA DELL'EDUCAZIONE, Case-Control Studies, Female, 0305 other medical science, Psychology, Child Language
-
10
المؤلفون: Chris Oliver, Anna Cereda, Julia O'Connor, Claudia Rigamonti, Ingrid D. C. van Balkom, Whitney Guthrie, David R. FitzPatrick, Paul A. Mulder, Angell Shi, Sylvia A. Huisman, Stacey L. Ishman, Matthew A. Deardorff, Lynne M. Kerr, Sigrid Piening, Joseph P. McCleery, Valérie Cormier-Daire, Peter M. Gillett, David Axtell, Antonella Costantino, Egbert J.W. Redeker, Carol J. Potter, Alex V. Levin, Angelo Selicorni, Raoul C.M. Hennekam, Natalie Blagowidow, Marco A. Grados, Mary Levis, Feliciano J. Ramos, Frank J. Kaiser, Zeynep Tümer, Joanna Moss, Juan Pié, Gerritjan Koekkoek, Laura Groves, Milena Mariani, Paola Francesca Ajmone, Amy Metrena, Ana L. Quaglio, Anne Marie Bisgaard, Leonie A. Menke, Jolanta Wierzba, Antonie D. Kline, David M. Richman
المصدر: Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tumer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews Genetics, vol. 19, no. 10, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0
Nature Reviews. Genetics
Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tümer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews. Genetics, vol. 19, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, Genetic testing, Cornelia de Lange Syndrome, Genetic syndromes, Cohesin complex, Statement (logic), BRACHMANN-DELANGE-SYNDROME, Signs and symptoms, Biology, 03 medical and health sciences, De Lange Syndrome, Intellectual disability, Genetics, medicine, Humans, Clinical genetics, Psychiatry, Molecular Biology, Genetic Association Studies, Genetics (clinical), GENOTYPE-PHENOTYPE CORRELATIONS, Genetic counselling, Disease genetics, AUTISM SPECTRUM DISORDER, Medical genetics, Consensus Statement, SELF-INJURIOUS-BEHAVIOR, High-Throughput Nucleotide Sequencing, Molecular diagnostics, medicine.disease, CONGENITAL DIAPHRAGMATIC-HERNIA, 030104 developmental biology, DU-CHAT-SYNDROMES, OF-THE-LITERATURE, AUTOSOMAL-DOMINANT INHERITANCE, Mutation, Marked heterogeneity, RUBINSTEIN-TAYBI SYNDROMES, TO-MALE TRANSMISSION
وصف الملف: application/pdf