المؤلفون: Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing

المصدر: HGG Advances, Vol 5, Iss 3, Pp 100314- (2024)

مصطلحات موضوعية: WGS, inherited retinal diseases, IRD, unsolved monoallelic cases, deep intronic variants, DIVs, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000538; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/e17626b213a24c63b6a4df65247a5db9

المؤلفون: Karla Alejandra Ruiz-Ceja, Dalila Capasso, Michele Pinelli, Eugenio Del Prete, Diego Carrella, Diego di Bernardo, Sandro Banfi

المصدر: BMC Genomics, Vol 24, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Inherited retinal disease, RNA-seq, Transcriptome, Alternative splicing, Human retina, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/10ba011192cc4b3abc348633bab9ded7

المؤلفون: Annalaura Montella, Vito Alessandro Lasorsa, Mario Capasso, Maria Valeria Corrias, Alberto Garaventa, Flora Cimmino, Loredana Amoroso, Alessandro Quattrone, Achille Iolascon, Riccardo Haupt, Dalila Capasso, Antonella Cardinale, Sueva Cantalupo, Marianna Avitabile

المساهمون: Avitabile, M., Lasorsa, V. A., Cantalupo, S., Cardinale, A., Cimmino, F., Montella, A., Capasso, D., Haupt, R., Amoroso, L., Garaventa, A., Quattrone, A., Corrias, M. V., Iolascon, A., Capasso, M.

المصدر: Journal of Cellular and Molecular Medicine

مصطلحات موضوعية: 0301 basic medicine, Male, pharmacogenomic, DNA Repair, Genotype, DNA repair, Poly (ADP-Ribose) Polymerase-1, SNP, Single-nucleotide polymorphism, chemotherapy, Polymorphism, Single Nucleotide, PARP1, 03 medical and health sciences, neuroblastoma, 0302 clinical medicine, Neuroblastoma, Medicine, Humans, RNA, Messenger, Allele, Alleles, Genetic Association Studies, pharmacogenomics, business.industry, Cytotoxins, Cancer, Infant, Promoter, Cell Biology, Original Articles, medicine.disease, Prognosis, Gene Expression Regulation, Neoplastic, 030104 developmental biology, Real-time polymerase chain reaction, Pharmacogenetics, 030220 oncology & carcinogenesis, Child, Preschool, oncology, Cancer research, Molecular Medicine, DNA mismatch repair, Female, Original Article, business, DNA Damage

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a985b070a6c8548f866fc2fed3b3584
https://pubmed.ncbi.nlm.nih.gov/32103589