المؤلفون: Roberta Onesimo, Daniela Ricci, Cristiana Agazzi, Simona Leone, Maria Petrianni, Lorenzo Orazi, Filippo Amore, Annabella Salerni, Chiara Leoni, Daniela Chieffo, Marco Tartaglia, Eugenio Mercuri, Giuseppe Zampino

المصدر: Genes, Vol 12, Iss 7, p 972 (2021)

مصطلحات موضوعية: CHARGE syndrome, coloboma, visual function, CHD7, genotype–ocular-phenotype, VISIOCHARGE, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/12/7/972Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/c5019cf62c07495a85b52d4d72d0810aTest

المؤلفون: Daniela Ricci, Filippo Amore, Marco Tartaglia, Eugenio Mercuri, Annabella Salerni, Daniela Chieffo, Giuseppe Zampino, Lorenzo Orazi, Chiara Leoni, Simona Leone, Cristiana Agazzi, Roberta Onesimo, Maria Petrianni

المصدر: Genes
Genes, Vol 12, Iss 972, p 972 (2021)
Volume 12
Issue 7

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, genetic structures, Disease, QH426-470, Correlation, CHD7, Cohort Studies, CHARGE syndrome, 0302 clinical medicine, genotype–ocular-phenotype, Prospective Studies, Child, Genetics (clinical), media_common, Coloboma, VISIOCHARGE, rare diseases, DNA-Binding Proteins, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Female, Cohort study, Adult, medicine.medical_specialty, Adolescent, Genotype, media_common.quotation_subject, Nonsense, Affect (psychology), Article, Frameshift mutation, 03 medical and health sciences, Young Adult, medicine, Genetics, visual function, Humans, Genetic Predisposition to Disease, Genetic Association Studies, business.industry, DNA Helicases, medicine.disease, eye diseases, Ophthalmology, 030104 developmental biology, Mutation, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ce16ee769ac3f67f364c41949448dd6Test
http://europepmc.org/articles/PMC8303791Test