المؤلفون: Gianluca Dini, Alberto Verrotti, Paolo Gorello, Luca Soliani, Duccio Maria Cordelli, Vincenzo Antona, Amedea Mencarelli, Davide Colavito, Paolo Prontera

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: NFIA, neurodevelopmental disorders, intellectual disability, genetics, pediatrics, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2023.1292654/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/8ec25769b4fa46dd92f227b84a70043cTest

المؤلفون: Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, Alessandro Bruselles, Andrea Ciolfi, Simone Pizzi, Maria Giovanna Tedesco, Daniela Rogaia, Amedea Mencarelli, Giuseppe Di Cara, Alberto Verrotti, Stefania Troiani, Giuseppe Merla, Marco Tartaglia, Paolo Prontera

المصدر: Genes, Vol 12, Iss 9, p 1406 (2021)

مصطلحات موضوعية: brachyolmia, amelogenesis imperfecta, LTBP3, whole exome sequencing, consanguinity, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/12/9/1406Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/fd039dfe0c8d46beab5e48a1f096aff0Test

المؤلفون: Kathleen Rooney, Michael A. Levy, Sadegheh Haghshenas, Jennifer Kerkhof, Daniela Rogaia, Maria Giovanna Tedesco, Valentina Imperatore, Amedea Mencarelli, Gabriella Maria Squeo, Eleonora Di Venere, Giuseppe Di Cara, Alberto Verrotti, Giuseppe Merla, Matthew L. Tedder, Barbara R. DuPont, Bekim Sadikovic, Paolo Prontera

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 16, p 8611 (2021)

مصطلحات موضوعية: 22q11.2 deletion, DNA methylation, episignature, diagnostic method, DiGeorge syndrome, Velocardiofacial syndrome, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/22/16/8611Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/8d2822585e6d4742b51decc5c323428dTest

المؤلفون: Laura Lucchetti, Paolo Prontera, Amedea Mencarelli, Ester Sallicandro, Annalisa Mencarelli, Marta Cofini, Alberto Leonardi, Gabriela Stangoni, Laura Penta, Susanna Esposito

المصدر: Frontiers in Endocrinology, Vol 9 (2018)

مصطلحات موضوعية: short stature, Leri–Weill dyschondrosteosis, novel missense mutation, SHOX, pediatric endocrinology, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: http://journal.frontiersin.org/article/10.3389/fendo.2018.00163/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/eac1f009be71444187ca8bc6af5e903aTest

المؤلفون: Annalisa Mencarelli, Paolo Prontera, Amedea Mencarelli, Daniela Rogaia, Gabriela Stangoni, Massimiliano Cecconi, Susanna Esposito

المصدر: International Journal of Molecular Sciences, Vol 19, Iss 10, p 3189 (2018)

مصطلحات موضوعية: missense mutation, NSD1 gene, overgrowth, skin hamartoma, Sotos syndrome, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: http://www.mdpi.com/1422-0067/19/10/3189Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/3a3d9d14a1eb4c8e9c5fb446783bb313Test

المؤلفون: Paolo Prontera, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, Gabriela Stangoni

المصدر: International Journal of Molecular Sciences, Vol 18, Iss 9, p 1998 (2017)

مصطلحات موضوعية: 1p32p31 deletion, moyamoya syndrome, craniosynostosis, FOXD3, FOXC1, FOX genes, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/18/9/1998Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/1f12c41559b9458eb4ee5e20508b7725Test

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: Simone Pizzi, Daniela Rogaia, Amedea Mencarelli, Giuseppe Merla, Maria Giovanna Tedesco, Valentina Imperatore, Alessandro Bruselles, Elisabetta Flex, Giuseppe Di Cara, Marco Tartaglia, Andrea Ciolfi, Stefania Troiani, Alberto Verrotti, Paolo Prontera, Giovanna Carpentieri

المساهمون: Flex, E., Imperatore, V., Carpentieri, G., Bruselles, A., Ciolfi, A., Pizzi, S., Tedesco, M. G., Rogaia, D., Mencarelli, A., Di Cara, G., Verrotti, A., Troiani, S., Merla, G., Tartaglia, M., Prontera, P.

المصدر: Genes, Vol 12, Iss 1406, p 1406 (2021)

مصطلحات موضوعية: Male, Adolescent, Consanguinity, Biology, QH426-470, whole exome sequencing, Pathogenesis, Genotype-phenotype distinction, consanguinity, Rare Disease, Latent TGF-beta Binding Protein, Peru, medicine, Genetics, Amelogenesis imperfecta, Osteochondrodysplasia, Genetics (clinical), Exome sequencing, Coxa valga, amelogenesis imperfecta, medicine.disease, Pedigree, LTBP3, Hypodontia, stomatognathic diseases, Phenotype, Dysplasia, brachyolmia, medicine.symptom, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1476327de32abd776bcd30df6fe1086Test
https://www.mdpi.com/2073-4425/12/9/1406Test

المؤلفون: Gabriella Maria Squeo, Eleonora Di Venere, Paolo Prontera, Matthew L. Tedder, Sadegheh Haghshenas, Kathleen Rooney, Giuseppe Merla, Daniela Rogaia, Amedea Mencarelli, Jennifer Kerkhof, Michael A. Levy, Bekim Sadikovic, Alberto Verrotti, Maria Giovanna Tedesco, Valentina Imperatore, Giuseppe Di Cara, Barbara R. DuPont

المساهمون: Rooney, K., Levy, M. A., Haghshenas, S., Kerkhof, J., Rogaia, D., Tedesco, M. G., Imperatore, V., Mencarelli, A., Squeo, G. M., Di Venere, E., Di Cara, G., Verrotti, A., Merla, G., Tedder, M. L., Dupont, B. R., Sadikovic, B., Prontera, P.

المصدر: Paediatrics Publications
International Journal of Molecular Sciences
Volume 22
Issue 16
International Journal of Molecular Sciences, Vol 22, Iss 8611, p 8611 (2021)

مصطلحات موضوعية: Male, 22q11.2 deletion, Velocardiofacial syndrome, QH301-705.5, Biology, Article, Catalysis, Inorganic Chemistry, Epigenome, DiGeorge syndrome, Intellectual disability, diagnostic method, medicine, Humans, Biology (General), Physical and Theoretical Chemistry, Episignature, QD1-999, Molecular Biology, Transcription factor, Gene, Spectroscopy, Conotruncalanomaly face syndrome, Genetics, DNA methylation, Organic Chemistry, Infant, General Medicine, Methylation, medicine.disease, Phenotype, Computer Science Applications, Chromatin, episignature, Chemistry, Female, Diagnostic method, Human

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe0ef59c4c31f9ef8c5535ee7ac4548Test
https://ir.lib.uwo.ca/paedpub/2029Test

المؤلفون: Marianna Farnè, Alessandra Ferlini, Giuseppe Di Cara, Amedea Mencarelli, Daniela Rogaia, Gabriela Stangoni, Paolo Prontera, Giovanna M. Tedesco, Stefania Troiani, Chiara Bedetti, Davide Colavito

مصطلحات موضوعية: Microcephaly, Pathology, medicine.medical_specialty, business.industry, hydrogen-magnetic resonance spectroscopy, Macrocephaly, review, Disease, Consanguinity, medicine.disease, Pathogenesis, MBOAT7, cerebellar atrophy, consanguinity, intellectual disability, Intellectual disability, Genetics, medicine, Cerebellar vermis, Cerebellar atrophy, medicine.symptom, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd4b55187dc4ec63799e3ccb0b943292Test
http://hdl.handle.net/11391/1479059Test