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

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

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

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

المؤلفون: C. Palmieri, Anna Maria Nardone, Stefania Zampatti, Francesca Gullotta, M.R. Abate, Marina Frontali, Antonio Novelli, Viola Alesi, Marta Bertoli

المصدر: American journal of medical genetics. Part A 161 (2013): 2004–2008. doi:10.1002/ajmg.a.35991
info:cnr-pdr/source/autori:Bertoli M.; Alesi V.; Gullotta F.; Zampatti S.; Abate M.R.; Palmieri C.; Novelli A.; Frontali M.; Nardone A.M./titolo:Another patient with 12q13 microduplication/doi:10.1002%2Fajmg.a.35991/rivista:American journal of medical genetics. Part A/anno:2013/pagina_da:2004/pagina_a:2008/intervallo_pagine:2004–2008/volume:161

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hyperkeratosis, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome 12, Phenocopy, Comparative Genomic Hybridization, Chromosomes, Human, Pair 12, Wolf-Hirschhorn Syndrome, business.industry, medicine.disease, Phenotype, Associated phenotype, Wolf-Hirschhorn syndrome phenocopy, Review Literature as Topic, Homogeneous, Female, 12q13 duplication, Chromosome Deletion, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eff38363dcbb49e786551132b837614fTest
https://doi.org/10.1002/ajmg.a.35991Test