المؤلفون: Susanna Rizzi, Carlotta Spagnoli, Melissa Bellini, Carlo Alberto Cesaroni, Elisabetta Spezia, Patrizia Bergonzini, Elisa Caramaschi, Luca Soliani, Emanuela Claudia Turco, Benedetta Piccolo, Laura Demuth, Duccio Maria Cordelli, Giacomo Biasucci, Daniele Frattini, Carlo Fusco

المصدر: Genes, Vol 14, Iss 9, p 1828 (2023)

مصطلحات موضوعية: AADC, Aromatic L-amino-acid decarboxylase deficiency, neurodevelopmental disorder, metabolic disease, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/9/1828; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/3bceafc0550f4a6a96f6db58e3963fde

المؤلفون: Valeria Barili, Enrico Ambrosini, Vera Uliana, Melissa Bellini, Giulia Vitetta, Davide Martorana, Ilenia Rita Cannizzaro, Antonietta Taiani, Erika De Sensi, Patrizia Caggiati, Sarah Hilton, Siddharth Banka, Antonio Percesepe

المصدر: Genes, Vol 14, Iss 6, p 1241 (2023)

مصطلحات موضوعية: neurodevelopmental disorders, Cornelia de Lange syndrome, MEIS2, Kabuki syndrome, Kleefstra syndrome, episignature, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/6/1241; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/71520baac815463081c6dd306c9eb933

المؤلفون: Letizia Straniero, Valeria Rimoldi, Giulia Soldà, Melissa Bellini, Giacomo Biasucci, Rosanna Asselta, Stefano Duga

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: intellectual disability, seizures, dysmorphism, OTUD6B, deubiquitinase, splicing mutation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00464/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/2764a50911624f9ab38b961c41bebfb5

المؤلفون: Ivana Magnani, Chiara Novielli, Melissa Bellini, Gaia Roversi, Lorenzo Bello, Lidia Larizza

المصدر: Cellular Oncology, Vol 31, Iss 5, Pp 357-370 (2009)

مصطلحات موضوعية: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1570-5870; https://doaj.org/toc/1875-8606

URL الوصول: https://doaj.org/article/663a3569a7c04011a02ce2fe0a278fd5

المؤلفون: Percesepe, Valeria Barili, Enrico Ambrosini, Vera Uliana, Melissa Bellini, Giulia Vitetta, Davide Martorana, Ilenia Rita Cannizzaro, Antonietta Taiani, Erika De Sensi, Patrizia Caggiati, Sarah Hilton, Siddharth Banka, Antonio

المصدر: Genes; Volume 14; Issue 6; Pages: 1241

مصطلحات موضوعية: neurodevelopmental disorders, Cornelia de Lange syndrome, MEIS2, Kabuki syndrome, Kleefstra syndrome, episignature, chromatinopathies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=multidiscipl::3c87005e1f30e812990bb814050510a2

المؤلفون: Clara Bonaglia, Daniela Giardino, Lucia Ballarati, Silvia Russo, Lucio Giordano, Maria Francesca Bedeschi, Angela Peron, Francesca Darra, Claudio Zucca, Rossella Caselli, Melissa Bellini, Maria Paola Canevini, Aglaia Vignoli, Francesca La Briola, Roberta Epifanio, Renato Borgatti, Romina Romaniello, Giuseppe Banderali

المصدر: Epilepsia. 53:1146-1155

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Pathology, Ataxia, medicine.diagnostic_test, Seizure types, MECP2 duplication syndrome, Spike-and-wave, Electroencephalography, medicine.disease, Epilepsy, Neurology, Gene duplication, medicine, Neurology (clinical), medicine.symptom, K-complex, Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f455bd5ebfd3e5dd4836bdb2fc830e9d
https://doi.org/10.1111/j.1528-1167.2012.03501.x

المؤلفون: Melissa Bellini, Giuseppe Cannalire, Giacomo Biasucci

المصدر: Journal of Clinical Case Reports. 5

مصطلحات موضوعية: Down syndrome, Pubertal Delay, business.industry, Medicine, business, medicine.disease, Bioinformatics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6e205859d28245417f5090b8db132232
https://doi.org/10.4172/2165-7920.1000640

المؤلفون: Melissa Bellini, Federica Natacci, Fabienne Escande, Ugo Cavallari, Maria Francesca Bedeschi, Faustina Lalatta

المصدر: Clinical Dysmorphology. 15:239-241

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Ectodermal dysplasia, Nails, Malformed, Oligodactyly, Acro dermato ungual lacrimal tooth, Cutaneous syndactyly, Pathology and Forensic Medicine, Variable Expression, stomatognathic system, Ectodermal Dysplasia, Anal stenosis, medicine, Humans, Abnormalities, Multiple, Maxillary central incisor, Child, Genetics (clinical), Tooth Abnormalities, business.industry, Tumor Suppressor Proteins, Syndrome, General Medicine, medicine.disease, Dermatology, Acro–dermato–ungual–lacrimal–tooth syndrome, DNA-Binding Proteins, stomatognathic diseases, Phenotype, Pediatrics, Perinatology and Child Health, Trans-Activators, Syndactyly, Anatomy, business, Nasolacrimal Duct, Hair, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f13e3d70649b84ce6088ef652955bdc
https://doi.org/10.1097/01.mcd.0000220618.01144.6d

المؤلفون: Aglaia, Vignoli, Renato, Borgatti, Angela, Peron, Claudio, Zucca, Lucia, Ballarati, Clara, Bonaglia, Melissa, Bellini, Lucio, Giordano, Romina, Romaniello, Maria Francesca, Bedeschi, Roberta, Epifanio, Silvia, Russo, Rossella, Caselli, Daniela, Giardino, Francesca, Darra, Francesca, La Briola, Giuseppe, Banderali, Maria Paola, Canevini

مصطلحات موضوعية: Adult, Male, Epilepsy, Adolescent, Methyl-CpG-Binding Protein 2, Electroencephalography, Brain Waves, Young Adult, MECP2 duplication, Genes, Duplicate, Child, Preschool, Humans, Female, Child, Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f4259a8d0ec86bdbccbbcee6d5af3f70
http://hdl.handle.net/11562/476755

المؤلفون: Pawel Stankiewicz, Swaroop Aradhya, Elizabeth Cameron, Danielle Martinet, Rolph Pfundt, Eliane Roulet, Angelo Selicorni, Jacques S. Beckmann, Bregje W.M. van Bon, Mira Irons, Sébastien Jacquemont, Lorraine Potocki, Barry Wolf, Melissa Bellini, Ankita Patel, Nine V A M Knoers, Annalisa Vetro, Scott B. Selleck, Han G. Brunner, James R. Lupski, Jorune Balciuniene, Sau Wai Cheung, Orsetta Zuffardi, Margherita Silengo, Sandesh C.S. Nagamani, Roberto Ciccone, Petr E. Jira, Gary Fruhman, Bert B.A. de Vries, Diane L Broome, Nicole de Leeuw, Brendan Lee

المصدر: European Journal of Human Genetics, 19, 400-8
European Journal of Human Genetics, 19, 4, pp. 400-8

مصطلحات موضوعية: Proband, Male, Candidate gene, PTEN, DNA Copy Number Variations, Developmental Disabilities, 10q22.3q23.2, Breast aplasia, breast development, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Biology, Article, Mice, Segmental Duplications, Genomic, Gene duplication, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Language Development Disorders, NRG3, BMPR1A, GRID1, Child, Genetics (clinical), Bone Morphogenetic Protein Receptors, Type I, Adaptor Proteins, Signal Transducing, Natural Cytotoxicity Triggering Receptor 3, Chromosomes, Human, Pair 10, Breakpoint, Macrocephaly, Body Dysmorphic Disorders, Phenotype, Penetrance, Megalencephaly, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], Female, medicine.symptom, Chromosome Deletion, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4606689b6239d089a08cd086ecbc10f
http://hdl.handle.net/2318/80606