المؤلفون: Valeria A. Sansone, Andrea Barp, Emilio Albamonte, Elena Carraro, Stefania Bergamoni, Lorenzo Maggi, Valentina Duga, Alice Passarini

المصدر: Journal of Pediatric Neurology. 20:067-070

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Sporadic hemiplegic migraine, 030105 genetics & heredity, Gastroenterology, Congenital ataxia, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Single amino acid, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::44098e4c7b718054d1f64432c041bb9cTest
https://doi.org/10.1055/s-0041-1725984Test

المؤلفون: Francesco Musacchia, Valentina Duga, Antonietta Coppola, Valeria Capra, Corrado Romano, Diego Carrella, Annalaura Torella, Margherita Mutarelli, Stefano D'Arrigo, Martino Montomoli, Michele Pinelli, Nicola Brunetti-Pierri, Vincenzo Nigro, Gerarda Cappuccio, Chiara Pantaleoni, Raffaele Castello, Luisa Chiapparini, Claudia Ciaccio, Sandro Banfi, Albina Tummolo, Silvia Maitz, Daniele De Brasi, Isabella Moroni, Giuseppina Vitiello, Vincenzo Leuzzi, Silvia Esposito, Donatella Milani, Marcella Zollino, Giancarlo Parenti, Claudia Santoro, Angelo Selicorni

المساهمون: Ciaccio, C., Duga, V., Pantaleoni, C., Esposito, S., Moroni, I., Pinelli, M., Castello, R., Nigro, V., Chiapparini, L., D'Arrigo, S., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Capra, V., Leuzzi, V., Selicorni, A., Maitz, S., Brunetti-Pierri, N., Banfi, S., Zollino, M., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C.

مصطلحات موضوعية: Microcephaly, Ataxia, Adolescent, Developmental Disabilitie, Developmental Disabilities, Mutation, Missense, Intellectual disability, Disease, Compound heterozygosity, Settore MED/03 - GENETICA MEDICA, Short stature, Young Adult, Genetics, Humans, Medicine, Abnormalities, Multiple, Global developmental delay, Genetics (clinical), Loss function, DNA-Repair, business.industry, Homozygote, Syndrome, General Medicine, medicine.disease, Pedigree, Phenotype, Female, medicine.symptom, TELO2, business, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d0d0cb886e0d5da0f837e3f265f4cfeTest
http://hdl.handle.net/11591/441235Test