المؤلفون: Simone Treccarichi, Pinella Failla, Mirella Vinci, Antonino Musumeci, Angelo Gloria, Anna Vasta, Giuseppe Calabrese, Carla Papa, Concetta Federico, Salvatore Saccone, Francesco Calì

المصدر: Genes, Vol 15, Iss 3, p 306 (2024)

مصطلحات موضوعية: UNC5C gene, netrin 1/DCC, axon guidance, microtubule dynamics, whole-exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/15/3/306; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/549cbcc8dc444560a96320de4c2d7c44

المؤلفون: Francesco Calì, Francesco Domenico Di Blasi, Emanuela Avola, Mirella Vinci, Antonino Musumeci, Angelo Gloria, Donatella Greco, Daniela Rita Raciti, Alessandro Zagami, Biagio Rizzo, Santina Città, Concetta Federico, Luigi Vetri, Salvatore Saccone, Serafino Buono

المصدر: Medicina, Vol 59, Iss 8, p 1503 (2023)

مصطلحات موضوعية: Specific Learning Disorder (SLD), dyslexia, next-generation sequencing, multiplex SLD families, single nucleotide polymorphisms, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1648-9144/59/8/1503; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144

URL الوصول: https://doaj.org/article/c52658657864431d919bb3b9d79f8f4a

المؤلفون: Ambra Butera, Antonio Gennaro Nicotera, Gabriella Di Rosa, Sebastiano Antonino Musumeci, Girolamo Aurelio Vitello, Antonino Musumeci, Mirella Vinci, Angelo Gloria, Concetta Federico, Salvatore Saccone, Francesco Calì

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 24, p 16130 (2022)

مصطلحات موضوعية: Potocki–Shaffer syndrome, PHF21A gene, intellectual disability, BHC80, hypotonia, contiguous gene deletion, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/23/24/16130; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/776a5bd6e6744c8c986d807fb5fcc163

المؤلفون: Donatella Greco, Luigi Vetri, Letizia Ragusa, Mirella Vinci, Angelo Gloria, Paola Occhipinti, Angela Antonia Costanzo, Giuseppe Quatrosi, Michele Roccella, Serafino Buono, Corrado Romano

المصدر: Medicina, Vol 57, Iss 5, p 460 (2021)

مصطلحات موضوعية: Angelman syndrome, fertility, offspring, Prader–Willi syndrome, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1648-9144/57/5/460; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144

URL الوصول: https://doaj.org/article/9e83373ef0f5499285af78d776c09019

المؤلفون: Angelo, Gloria.

مصطلحات موضوعية: Women political activists -- Chile., Women in community development -- Chile., Social action -- Chile., Feminists -- Chile -- Political activity.

جغرافية الموضوع: Chile -- Politics and government -- 1973-1988.

المؤلفون: Angela Antonia Costanzo, Serafino Buono, Paola Occhipinti, Corrado Romano, Angelo Gloria, Michele Roccella, Luigi Vetri, Donatella Greco, Giuseppe Quatrosi, Letizia Ragusa, Mirella Vinci

المساهمون: Greco D., Vetri L., Ragusa L., Vinci M., Gloria A., Occhipinti P., Costanzo A.A., Quatrosi G., Roccella M., Buono S., Romano C.

المصدر: Medicina, Vol 57, Iss 460, p 460 (2021)
Medicina

مصطلحات موضوعية: Medicine (General), congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Prader–Willi syndrome, Offspring, media_common.quotation_subject, Case Report, 030209 endocrinology & metabolism, Fertility, Human sexuality, 03 medical and health sciences, R5-920, 0302 clinical medicine, Pregnancy, Angelman syndrome, Humans, Medicine, Allele, media_common, fertility, Daughter, 030219 obstetrics & reproductive medicine, offspring, business.industry, nutritional and metabolic diseases, General Medicine, medicine.disease, Settore MED/39 - Neuropsichiatria Infantile, nervous system diseases, Transgender hormone therapy, Menarche, Female, Angelman syndrome, Fertility, Offspring, Prader–Willi syndrome, Female, Fertility, Humans, Pregnancy, Angelman Syndrome, Prader-Willi Syndrome, business, Prader-Willi Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06958e36a2f30edf3647f382230f70f6
https://doi.org/10.3390/medicina57050460

المؤلفون: Michele Falco, Angelo Gloria, S. Amata, Lucia Grillo, Maria Piccione, Angela Spalletta, Maurizio Sturnio, Marco Fichera, Vincenzo Antona, Ornella Galesi, Lucia Castiglia, Girolamo Aurelio Vitello, Michele Salemi, Mirella Vinci

المساهمون: Vinci, M., Falco, M., Castiglia, L., Grillo, L., Spalletta, A., Sturnio, M., Galesi, O., Salemi, M., Gloria, A., Amata, S., Piccione, M., Antona, V., Vitello, G., Fichera, M.

المصدر: Genes & Genomics. 38:1159-1164

مصطلحات موضوعية: 0301 basic medicine, Genetics, CRASH syndrome, Hydrocephalu, Sequence analysis, Spastic paraplegia, MASA syndrome, L1-disease, Biology, Corpus callosum, medicine.disease, Biochemistry, Human genetics, Hydrocephalus, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, medicine, Adducted thumb, Differential diagnosis, L1 syndrome, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f28490319301bc315aa88659e7e9ac14
https://doi.org/10.1007/s13258-016-0460-0

المؤلفون: Carmela Maria Bonaccorso, Angelo Gloria, Giuseppina Barrancotto, Sebastiano A. Musumeci, Barbara Bardoni, Maria Vincenza Catania

المصدر: 13th International Workshop on Fragile X and X-Linked Mental Retardation, Venezia, 2007
info:cnr-pdr/source/autori:Carmela Maria Bonaccorso, Angelo Gloria, Giuseppina Barrancotto, Sebastiano A. Musumeci, Barbara Bardoni, Maria Vincenza Catania/congresso_nome:13th International Workshop on Fragile X and X-Linked Mental Retardation/congresso_luogo:Venezia/congresso_data:2007/anno:2007/pagina_da:/pagina_a:/intervallo_pagine

مصطلحات موضوعية: western blotting, FMRP, mental retardation, development

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::831a385695bf121005d753921d2bf844
http://www.cnr.it/prodotto/i/124720

المؤلفون: Angelo, Gloria.

مصطلحات موضوعية: Women -- Chile -- Santiago -- Social conditions -- Case studies., Case studies.

المؤلفون: Concetta Meli, Giacomo De Leo, Monica D'Amato, Georgia Cassara, P. Schinocca, Letizia Palillo, Angelo Gloria, Francesco Calì, Valentino Romano, Mario G. Mirisola

المصدر: Molecular genetics and metabolism. 74(3)

مصطلحات موضوعية: Male, Genotype, Endocrinology, Diabetes and Metabolism, Recombinant Fusion Proteins, Population, DNA Mutational Analysis, Biology, Gene mutation, Biochemistry, Identity by descent, Gene Expression Regulation, Enzymologic, Endocrinology, Hyperphenylalaninemia, Phenylketonurias, Genetics, medicine, Animals, Humans, RNA, Messenger, Allele, education, Child, Molecular Biology, Sicily, Alleles, education.field_of_study, Polymorphism, Genetic, Haplotype, Phenylalanine Hydroxylase, DNA, medicine.disease, Blotting, Northern, Phenotype, Haplotypes, COS Cells, Mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30a9b5b9ac6b401f7095c1c496c4fe48
https://pubmed.ncbi.nlm.nih.gov/11708866