المؤلفون: Luigi Campa, Maria Cristina Maggio, Mario Giuffrè, Giovanni Corsello

المساهمون: Luigi Campa, Maria Cristina Maggio, Mario Giuffrè, Giovanni Corsello

مصطلحات موضوعية: ORMONE DELLA CRESCITA, SINDROME DA MICRODELEZIONE, SBILANCIAMENTO CROMOSOMICO (CR3-6), Settore MED/38 - Pediatria Generale E Specialistica

العلاقة: ispartofbook:XXII Congresso Nazionale SIEDP - Atti del Congresso; XXII Congresso Nazionale SIEDP; firstpage:250; lastpage:250; numberofpages:1; http://hdl.handle.net/10447/390131Test

الإتاحة: http://hdl.handle.net/10447/390131Test

المؤلفون: O. Daolio, A. Boni, F. Resca, VISCONTI, PAOLA, POSAR, ANNIO, SANTUCCI, MARGHERITA

المساهمون: O. Daolio, A. Boni, P. Visconti, F. Resca, A. Posar, M. Santucci

مصطلحات موضوعية: Epilessia, Genetica, Microdelezione, Microduplicazione, CHRNA7

وصف الملف: ELETTRONICO

العلاقة: ispartofbook:XXXVI Congresso Nazionale LICE; XXXVI Congresso Nazionale LICE; firstpage:1; lastpage:1; numberofpages:1; http://hdl.handle.net/11585/150077Test

الإتاحة: http://hdl.handle.net/11585/150077Test

المؤلفون: A. Aldrovandi, POSAR, ANNIO, SANTUCCI, MARGHERITA

المساهمون: A. Aldrovandi, A. Posar, M. Santucci

مصطلحات موضوعية: Epilessia, Genetica, Microdelezione

وصف الملف: ELETTRONICO

العلاقة: ispartofbook:Aggiornamenti in epilettologia 2012; 35° Congresso Nazionale LICE; firstpage:178; lastpage:180; numberofpages:3; http://hdl.handle.net/11585/150075Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84887291543

الإتاحة: http://hdl.handle.net/11585/150075Test

المؤلفون: Aldrovandi A., POSAR, ANNIO, SANTUCCI, MARGHERITA

المساهمون: A. Aldrovandi, A. Posar, M. Santucci, Aldrovandi A., Posar A., Santucci M.

مصطلحات موضوعية: Epilessia, Genetica, Diagnosi, Microdelezione

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4b13bef4c669fcde6736ff36f998c2eeTest
http://hdl.handle.net/11585/150075Test

المؤلفون: Giampiero Palmieri, Anna Maria Nardone, Barbara Testa, D. Minella, Livia Biancone, Antonio Novelli, Francesco Pallone, Marina Frontali, Caterina Tanzarella, Michela Biancolella, Alessandra di Masi, Giuseppe Novelli, Emma Calabrese, Antonio Antoccia, Maria Rosaria D'Apice, Norma Licata, Federica Sangiuolo, Francesca Gullotta

المصدر: BMC medical genetics (Online) 16 (2015): 1. doi:10.1186/s12881-015-0164-3
info:cnr-pdr/source/autori:D'Apice M.R.; Novelli A.; di Masi A.; Biancolella M.; Antoccia A.; Gullotta F.; Licata N.; Minella D.; Testa B.; Nardone A.M.; Palmieri G.; Calabrese E.; Biancone L.; Tanzarella C.; Frontali M.; Sangiuolo F.; Novelli G.; Pallone F./titolo:Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome?/doi:10.1186%2Fs12881-015-0164-3/rivista:BMC medical genetics (Online)/anno:2015/pagina_da:1/pagina_a:/intervallo_pagine:1/volume:16

مصطلحات موضوعية: Male, Letter, Adolescent, Apraxias, Pseudogene, Developmental Disabilities, Locus (genetics), Hemizygosity, Biology, Young Adult, Malabsorption Syndromes, Genetics, Humans, Child, Preschool, Gene Expression Regulation, Genetic Loci, Multigene Family, Phenotype, Pseudogenes, Sequence Deletion, Genetics(clinical), Copy-number variation, Allele, Child, Preschool, Gene, Genetics (clinical), cromosoma 8, Microdeletion syndrome, Human genetics, dismorfismo, Settore MED/03 - Genetica Medica, microdelezione

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::249e481b7cd6f1707c467ca2dadc13deTest