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1Academic Journal
المؤلفون: Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm, Caterina Zanus, Elisa Paccagnella, Irene Bruno, Erica Valencic, Anna Morgan, Alberto Tommasini, Christel Thauvin, Allan Bayat, Giorgia Girotto, Luciana Musante
المصدر: Biomolecules, Vol 14, Iss 12, p 1626 (2024)
مصطلحات موضوعية: PIGW, GPIBD11, heart malformation, epilepsy, fetus, 17q12 genomic disorder, Microbiology, QR1-502
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Francesca Burlo, Egidio Barbi, Marco Carrozzi, Caterina Zanus
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Caterina Zanus, Aleksandar Miladinović, Federica De Dea, Aldo Skabar, Matteo Stecca, Miloš Ajčević, Agostino Accardo, Marco Carrozzi
المصدر: Entropy, Vol 25, Iss 9, p 1244 (2023)
مصطلحات موضوعية: sleep spindle, connectivity, graph analysis, EEG, ADHD, Science, Astrophysics, QB460-466, Physics, QC1-999
وصف الملف: electronic resource
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4Academic Journal
المؤلفون: Caterina Zanus, Sara Battistutta, Renata Aliverti, Lorenzo Monasta, Marcella Montico, Luca Ronfani, Marco Carrozzi
المصدر: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-14 (2021)
مصطلحات موضوعية: Suicide, Self-harm, Self-injurious, Emotion dysregulation, Adolescence, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1824-7288
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5Academic Journal
المؤلفون: Maria Sole Giurin, Marta Paulina Trojniak, Anna Arbo, Marco Carrozzi, Giuseppe Abbracciavento, Lorenzo Monasta, Caterina Zanus
المصدر: Frontiers in Pharmacology, Vol 13 (2022)
مصطلحات موضوعية: off-label, antipsychotics, antiepileptics, pediatric, pharmacovigilance, clinical pharmacist, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
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6Academic Journal
المؤلفون: Caterina Zanus, Sara Battistutta, Renata Aliverti, Marcella Montico, Silvana Cremaschi, Luca Ronfani, Lorenzo Monasta, Marco Carrozzi
المصدر: PLoS ONE, Vol 12, Iss 1, p e0170979 (2017)
وصف الملف: electronic resource
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7Academic Journal
المؤلفون: Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo P. d’Adamo, Luciana Musante
المصدر: Genes; Volume 14; Issue 2; Pages: 250
مصطلحات موضوعية: WES, POBINDS, mRNA and protein instability, CK2beta haploinsufficiency, IDCS, KEN like-box, phenotypic continuum
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14020250
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8Academic Journal
المؤلفون: Luciana Musante, Paola Costa, Caterina Zanus, Flavio Faletra, Flora M. Murru, Anna M. Bianco, Martina La Bianca, Giulia Ragusa, Emmanouil Athanasakis, Adamo P. d’Adamo, Marco Carrozzi, Paolo Gasparini
المصدر: Genes; Volume 13; Issue 3; Pages: 500
مصطلحات موضوعية: neurodevelopmental disorders (NDDs), epileptic encephalopathies (EEs), developmental and epileptic encephalopathies (DEEs), whole-exome sequencing (WES), reverse phenotyping
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13030500
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9Academic Journal
المؤلفون: Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Peroni, Roberta Battini, Thomas Foiadelli, Veronica Bertini, Angelo Valetto, Michele Iacomino, Vincenzo Nigro, Anna Laura Torella, Marcello Scala, Valeria Capra, Maria Stella Vari, Anna Fetta, Veronica Di Pisa, Francesca Montanari, Roberta Epifanio, Paolo Bonanni, Roberto Giorda, Francesca Operto, Grazia Pastorino, Esra Sarigecili, Esra Sardaroglu, Cetin Okuyaz, Sevgan Bozdogan, Luciana Musante, Flavio Faletra, Caterina Zanus, Alessandro Ferretti, Federico Vigevano, Pasquale Striano, Duccio Maria Cordelli
المصدر: Genes; Volume 13; Issue 2; Pages: 276
مصطلحات موضوعية: Pobinds, neurodevelopment, epilepsy, seizure, CSNK2B
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13020276
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10Academic Journal
المؤلفون: Chiara Davico, Daniele Marcotulli, Giuseppe Abbracciavento, Thomas Anfosso, Massimo Apicella, Roberto Averna, Marzia Bazzoni, Dario Calderoni, Luca Cammisa, Alessandra Carta, Sara Carucci, Giorgio Cozzi, Federica Di Santo, Elisa Fazzi, Caterina Lux, Chiara Narducci, Lino Nobili, Ilaria Onida, Tiziana Pisano, Umberto Raucci, Idanna Sforzi, Laura Siri, Stefano Sotgiu, Simone Tavano, Arianna Terrinoni, Sara Uccella, Stefano Vicari, Caterina Zanus, Benedetto Vitiello
المساهمون: Davico, Chiara, Marcotulli, Daniele, Abbracciavento, Giuseppe, Anfosso, Thoma, Apicella, Massimo, Averna, Roberto, Bazzoni, Marzia, Calderoni, Dario, Cammisa, Luca, Carta, Alessandra, Carucci, Sara, Cozzi, Giorgio, Di Santo, Federica, Fazzi, Elisa, Lux, Caterina, Narducci, Chiara, Nobili, Lino, Onida, Ilaria, Pisano, Tiziana, Raucci, Umberto, Sforzi, Idanna, Siri, Laura, Sotgiu, Stefano, Tavano, Simone, Terrinoni, Arianna, Uccella, Sara, Vicari, Stefano, Zanus, Caterina, Vitiello, Benedetto
مصطلحات موضوعية: adolescence, COVID-19, mental disorder, emergency
Relation: journal:JAMA NETWORK OPEN; https://hdl.handle.net/11573/1722164
الاتاحة: https://hdl.handle.net/11573/1722164
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11
المؤلفون: Caterina Zanus, Marco Carrozzi, Paola Costa, Luciana Musante, Flavio Faletra
المصدر: Medico e Bambino. 41:33-40
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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12
المؤلفون: Luisa Grazian, Marco Carrozzi, Paola Costa, Flavio Faletra, Angelo Russo, Luciana Musante, Caterina Zanus
المصدر: Epileptic Disorders. 22:659-663
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Microcephaly, Cortical visual impairment, Disease, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Genotype, Humans, Medicine, Ictal, Child, Genetic Association Studies, Exome sequencing, business.industry, Electroencephalography, General Medicine, medicine.disease, Neurology, Mutation, ATPases Associated with Diverse Cellular Activities, Sensorineural hearing loss, Neurology (clinical), business, Epileptic Syndromes, 030217 neurology & neurosurgery
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13
المؤلفون: Allan Bayat, Zhenjiang Liu, Sheng Luo, Christina D. Fenger, Anne F. Hojte, Bertrand Isidor, Benjamin Cogne, Austin Larson, Caterina Zanus, Faletra Flavio, Boris Keren, Luciana Musante, Isabelle Gourfinkel-An, Charles Perrine, Caroline Demily, Gaeton Lesca, Weiping Liao, Dejian Ren
المصدر: Genetics in Medicine. :100894
مصطلحات موضوعية: Genetics (clinical)
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14
المؤلفون: Chiara ZANCHI, Aldo SKABAR, Caterina ZANUS, Greta TOLOMEI, Sergio GHIRARDO, Rita GIORGI, Angelika VELKOSKI, Egidio BARBI, Giorgio COZZI
المصدر: Minerva Pediatrics.
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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15
المؤلفون: Luciana Musante, Flavio Faletra, Kolja Meier, Hoda Tomoum, Paria Najarzadeh Torbati, Edward Blair, Sally North, Jutta Gärtner, Susann Diegmann, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Ehsan Ghayoor Karimiani, David Murphy, Flora Maria Murru, Caterina Zanus, Andrea Magnolato, Martina La Bianca, Agnese Feresin, Giorgia Girotto, Paolo Gasparini, Paola Costa, Marco Carrozzi
المساهمون: Musante, Luciana, Faletra, Flavio, Meier, Kolja, Tomoum, Hoda, Najarzadeh Torbati, Paria, Blair, Edward, North, Sally, Gärtner, Jutta, Diegmann, Susann, Beiraghi Toosi, Mehran, Ashrafzadeh, Farah, Ghayoor Karimiani, Ehsan, Murphy, David, Murru, Flora Maria, Zanus, Caterina, Magnolato, Andrea, La Bianca, Martina, Feresin, Agnese, Girotto, Giorgia, Gasparini, Paolo, Costa, Paola, Carrozzi, Marco
مصطلحات موضوعية: TTC5, biallelic mutation, biallelic mutations, deep phenotyping, severe NDD syndrome, Genetics, Genetics (clinical)
وصف الملف: application/pdf
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16
المؤلفون: Maria Sole Giurin, Marta Paulina Trojniak, Anna Arbo, Marco Carrozzi, Giuseppe Abbracciavento, Lorenzo Monasta, Caterina Zanus
المصدر: Frontiers in pharmacology. 13
مصطلحات موضوعية: Pharmacology, Pharmacology (medical)
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17
المؤلفون: Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler
المساهمون: Clinical Genetics, Developmental Biology, Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., Mcconkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., Mcwalter, K., Desai, M., Monaghan, K. G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P. A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., Mackenzie, J. J., Monteleone, B., Saunders, C. J., Jean Cuevas, J. K., Cross, L., Zhou, D., Hartley, T., Sawyer, S. L., Monteiro, F. P., Secches, T. V., Kok, F., Schultz-Rogers, L. E., Macke, E. L., Morava, E., Klee, E. W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D. J., Pais, L., Gallacher, L., Turnpenny, P. D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, K., Castle, A. M. R., Carter, M. T., Kalsner, L., de Vries, B. B. A., van Bon, B. W., Wevers, M. R., Pfundt, R., Stegmann, A. P. A., Kerr, B., Kingston, H. M., Chandler, K. E., Sheehan, W., Elias, A. F., Shinde, D. N., Towne, M. C., Robin, N. H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R. T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E. C., Earl, R. K., Anderlid, B. -M., Morin, G., van Slegtenhorst, M., Diderich, K. E. M., Brooks, A. S., Gribnau, J., Boers, R. G., Finestra, T. R., Carter, L. B., Rauch, A., Gasparini, P., Boycott, K. M., Barakat, T. S., Graham, J. M., Faivre, L., Banka, S., Wang, T., Eichler, E. E., Priolo, M., Dallapiccola, B., Vissers, L. E. L. M., Sadikovic, B., Scott, D. A., Holder, J. L., Tartaglia, M., MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516مصطلحات موضوعية: 0301 basic medicine, SHARP, Male, obesity, genotype-phenotype correlations, Autism Spectrum Disorder, PROTEIN, Chromosome Disorders, Haploinsufficiency, RNA-Binding Protein, PHENOTYPE CORRELATIONS, 1p36, distal 1p36 deletion syndrome, DNA methylome analysis, episignature, neurodevelopmental disorder, proximal 1p36 deletion syndrome, SPEN, X chromosome, Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, X, DNA Methylation, DNA-Binding Proteins, Epigenesis, Genetic, Female, Humans, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, RNA-Binding Proteins, Young Adult, 0302 clinical medicine, Neurodevelopmental disorder, Neurodevelopmental Disorder, Intellectual disability, MOLECULAR CHARACTERIZATION, Genetics (clinical), Genetics, DNA methylome analysi, SPLIT-ENDS, Hypotonia, Autism spectrum disorder, MONOSOMY 1P36, Pair 1, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, DNA-Binding Protein, Biology, genotype-phenotype correlation, Chromosomes, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, Report, REVEALS, medicine, Epigenetics, Preschool, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 1p36 deletion syndrome, IDENTIFICATION, MUTATIONS, medicine.disease, GENE, 030104 developmental biology, Chromosome Disorder, 030217 neurology & neurosurgery, Epigenesis
وصف الملف: application/pdf
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18
المؤلفون: Paola, Costa, Caterina, Zanus, Flavio, Faletra, Giulia, Ventura, Giulia Maria, di Marzio, Chiara, Cervesi, Marco, Carrozzi
المصدر: Epileptic disorders : international epilepsy journal with videotape. 21(5)
مصطلحات موضوعية: Male, Brain Diseases, Seizures, Intellectual Disability, Infant, Newborn, Microcephaly, Humans, Aspartate-Ammonia Ligase, Electroencephalography, Atrophy
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19Conference
المؤلفون: Federica De Dea, Caterina Zanus, Marco Carrozzi, Matteo Stecca, Agostino Accardo
المساهمون: Fatimah Ibrahim, Igor Lacković, Piotr Ładyżyński, Emilio Sacristan Rock, DE DEA, Federica, Zanus, Caterina, Carrozzi, Marco, Stecca, Matteo, Accardo, Agostino
مصطلحات موضوعية: Power spectral density, Sleep spindle, Children
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/isbn/978-981-10-9037-0; info:eu-repo/semantics/altIdentifier/isbn/978-981-10-9038-7; info:eu-repo/semantics/altIdentifier/wos/WOS:000449742700046; ispartofbook:World Congress on Medical Physics and Biomedical Engineering 2018; World Congress on Medical Physics and Biomedical Engineering 2018; volume:68; issue:2; firstpage:247; lastpage:251; numberofpages:5; serie:IFMBE PROCEEDINGS; alleditors:Fatimah Ibrahim, Igor Lacković, Piotr Ładyżyński, Emilio Sacristan Rock; http://hdl.handle.net/11368/2926607; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048220130; https://link.springer.com/book/10.1007/978-981-10-9038-7
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20Academic Journal
المؤلفون: Marina Trivisano, Nicola Pietrafusa, Alessandra Terracciano, Carla Marini, Davide Mei, Francesca Darra, Patrizia Accorsi, Domenica Battaglia, Lorella Caffi, Maria P. Canevini, Simona Cappelletti, Elisabetta Cesaroni, Luca de Palma, Paola Costa, Raffaella Cusmai, Lucio Giordano, Annarita Ferrari, Elena Freri, Lucia Fusco, Tiziana Granata, Tommaso Martino, Massimo Mastrangelo, Stefania M. Bova, Lucio Parmeggiani, Francesca Ragona, Federico Sicca, Pasquale Striano, Luigi M. Specchio, Ilaria Tondo, Elena Zambrelli, Nelia Zamponi, Caterina Zanus, Clementina Boniver, Marilena Vecchi, Carlo Avolio, Bernardo Dalla Bernardina, Enrico Bertini, Renzo Guerrini, Federico Vigevano, SPECCHIO, NICOLA
المساهمون: Trivisano, Marina, Nicola, Pietrafusa, Alessandra, Terracciano, Carla, Marini, Davide, Mei, Francesca, Darra, Patrizia, Accorsi, Domenica, Battaglia, Lorella, Caffi, Canevini, Maria P., Simona, Cappelletti, Elisabetta, Cesaroni, Luca de Palma, Paola, Costa, Raffaella, Cusmai, Lucio, Giordano, Annarita, Ferrari, Elena, Freri, Lucia, Fusco, Tiziana, Granata, Tommaso, Martino, Massimo, Mastrangelo, Bova, Stefania M., Lucio, Parmeggiani, Francesca, Ragona, Federico, Sicca, Pasquale, Striano, Specchio, Luigi M., Ilaria, Tondo, Elena, Zambrelli, Nelia, Zamponi, Caterina, Zanu, Clementina, Boniver, Marilena, Vecchi, Avolio, Carlo, Bernardo Dalla Bernardina, Enrico, Bertini, Renzo, Guerrini, Federico, Vigevano, Specchio, Nicola
وصف الملف: STAMPA
Relation: volume:59; issue:12; firstpage:2260; lastpage:2271; numberofpages:12; journal:EPILEPSIA; https://hdl.handle.net/11369/374019; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85056741071