المؤلفون: Ilenia Maini, Stefano G. Caraffi, Francesca Peluso, Lara Valeri, Davide Nicoli, Steven Laurie, Chiara Baldo, Orsetta Zuffardi, Livia Garavelli

المصدر: Genes; Volume 12; Issue 6; Pages: 900

مصطلحات موضوعية: NAA10 -related syndrome, X-linked disorder, syndromic and non-syndromic intellectual disability, genotype–phenotype correlation

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12060900Test

الإتاحة: https://doi.org/10.3390/genes12060900Test

المؤلفون: Orsetta Zuffardi, Lara Valeri, Davide Nicoli, Stefano Giuseppe Caraffi, Steven Laurie, Ilenia Maini, Livia Garavelli, Francesca Peluso, Chiara Baldo

المصدر: Genes, Vol 12, Iss 900, p 900 (2021)
Genes
Volume 12
Issue 6

مصطلحات موضوعية: 0301 basic medicine, Syndromic and non-syndromic intellectual disability, Adolescent, Genotype, Developmental Disabilities, Mutation, Missense, QH426-470, 030105 genetics & heredity, Article, NAA10-related syndrome, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, Intellectual Disability, Intellectual disability, Genetics, Humans, Medicine, Missense mutation, Acetyltransferase complex, N-Terminal Acetyltransferase E, N-Terminal Acetyltransferase A, Genetics (clinical), Exome sequencing, business.industry, Genotype–phenotype correlation, NAA10 Gene, Genetic Diseases, X-Linked, Syndrome, medicine.disease, Xq28, Ogden Syndrome, X-linked disorder, Phenotype, 030104 developmental biology, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4959820eb7a4625df7c276a2b4ba84f8Test
http://hdl.handle.net/10230/49030Test

المؤلفون: Maini, Ilenia, Caraffi, Stefano G., Peluso, Francesca, Valeri, Lara, Nicoli, Davide, Laurie, Steven, 1973-, Baldo, Chiara, Zuffardi, Orsetta, Garavelli, Livia

مصطلحات موضوعية: NAA10-related syndrome, X-linked disorder, Genotype–phenotype correlation, Syndromic and non-syndromic intellectual disability

وصف الملف: application/pdf

العلاقة: Genes (Basel). 2021;12(6):900; info:eu-repo/grantAgreement/EC/FP7/305444; Maini I, Caraffi SG, Peluso F, Valeri L, Nicoli D, Laurie S, Baldo C, Zuffardi O, Garavelli L. Clinical manifestations in a girl with NAA10-related syndrome and genotype-phenotype correlation in females. Genes (Basel). 2021;12(6):900. DOI:10.3390/genes12060900; http://hdl.handle.net/10230/49030Test; http://dx.doi.org/10.3390/genes12060900Test

الإتاحة: https://doi.org/10.3390/genes12060900Test
http://hdl.handle.net/10230/49030Test