المؤلفون: Musumeci A, Calì F, Scuderi C, Vinci M, Vitello GA, Musumeci SA, Chiavetta V, Federico C, Amore G, Saccone S, Di Rosa G, Nicotera AG.

المساهمون: Musumeci, A, Calì, F, Scuderi, C, Vinci, M, Vitello, Ga, Musumeci, Sa, Chiavetta, V, Federico, C, Amore, G, Saccone, S, Di Rosa, G, Nicotera, Ag.

مصطلحات موضوعية: POLR3A, hypomyelination, leukodystrophy, missense mutation, neurodegenerative disorder

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36140376; info:eu-repo/semantics/altIdentifier/wos/WOS:000857599500001; volume:10; issue:9; firstpage:1; lastpage:9; numberofpages:9; journal:BIOMEDICINES; http://hdl.handle.net/11570/3240390Test

الإتاحة: https://doi.org/10.3390/biomedicines10092276Test
http://hdl.handle.net/11570/3240390Test

المؤلفون: Butera A, Nicotera AG, Di Rosa G, Musumeci SA, Vitello GA, Musumeci A, Vinci M, Gloria A, Federico C, Saccone S, Calì F

المساهمون: Butera, A, Nicotera, Ag, Di Rosa, G, Musumeci, Sa, Vitello, Ga, Musumeci, A, Vinci, M, Gloria, A, Federico, C, Saccone, S, Calì, F

مصطلحات موضوعية: BHC80, PHF21A gene, Potocki–Shaffer syndrome, contiguous gene deletion, human chromosome 11, hypotonia, intellectual disability

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36555772; volume:23; issue:24; firstpage:1; lastpage:10; numberofpages:10; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11570/3270588Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144517855

الإتاحة: https://doi.org/10.3390/ijms232416130Test
https://hdl.handle.net/11570/3270588Test

المؤلفون: Calì,F, Ruggeri,G, Chiavetta,V, Scuderi,C, Bianca,S, Barone,C, Ragalmuto,A, Schinocca,P, Vitello,GA, ROMANO, Valentino, Musumeci,S

المساهمون: Calì,F, Ruggeri,G, Chiavetta,V, Scuderi,C, Bianca,S, Barone,C, Ragalmuto,A, Schinocca,P, Vitello,GA, Romano,V, Musumeci,S

مصطلحات موضوعية: survival motor neuron gene (SMN1), spinal muscular atrophy, carrier screening, MLPA, Settore BIO/13 - Biologia Applicata

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24840836; info:eu-repo/semantics/altIdentifier/wos/WOS:000337252700019; volume:93; issue:1; firstpage:179; lastpage:181; numberofpages:3; journal:JOURNAL OF GENETICS; http://hdl.handle.net/10447/98880Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84903200821

الإتاحة: http://hdl.handle.net/10447/98880Test

المؤلفون: Broli M, Bisulli F, Mastrangelo M, Fontana E, Fiocchi I, Zucca C, Bonaglia MC, Buono S, Musumeci SA, Romano C, Reitano S, Savio M, Vitello GA, Bernardi B, Cevolani D, Agati R, Poda R, Gallassi R, Giorda R, Bernardina BD, Seri M, Tinuper P., ZUFFARDI, ORSETTA

المساهمون: Broli, M, Bisulli, F, Mastrangelo, M, Fontana, E, Fiocchi, I, Zucca, C, Bonaglia, Mc, Buono, S, Musumeci, Sa, Romano, C, Reitano, S, Savio, M, Vitello, Ga, Bernardi, B, Cevolani, D, Agati, R, Poda, R, Gallassi, R, Giorda, R, Zuffardi, Orsetta, Bernardina, Bd, Seri, M, Tinuper, P.

مصطلحات موضوعية: Xp11.22-11.23, mental retardation, speech impairment

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21926047; info:eu-repo/semantics/altIdentifier/wos/WOS:000296567000002; volume:13; issue:3; firstpage:240; lastpage:251; numberofpages:12; journal:EPILEPTIC DISORDERS; http://hdl.handle.net/11571/306106Test; info:eu-repo/semantics/altIdentifier/scopus/eid=2-s2.0-84856398978

الإتاحة: https://doi.org/10.1684/epd.2011.0462Test
http://hdl.handle.net/11571/306106Test

المؤلفون: Giorda R, Bonaglia MC, Beri S, Fichera M, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso M, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Raitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, NOVARA, FRANCESCA, ZUFFARDI, ORSETTA

المساهمون: Giorda, R, Bonaglia, Mc, Beri, S, Fichera, M, Novara, Francesca, Magini, P, Urquhart, J, Sharkey, Fh, Zucca, C, Grasso, M, Marelli, S, Castiglia, L, Di Benedetto, D, Musumeci, Sa, Vitello, Ga, Failla, P, Raitano, S, Avola, E, Bisulli, F, Tinuper, P, Mastrangelo, M, Fiocchi, I, Spaccini, L, Torniero, C, Fontana, E, Lynch, Sa, Clayton Smith, J, Black, G, Jonveaux, P, Leheup, B, Seri, M, Romano, C, dalla Bernardina, B, Zuffardi, Orsetta

مصطلحات موضوعية: RITARDO MENTALE, DUPLICAZIONE Xp, FAMILIARE

وصف الملف: STAMPA

العلاقة: volume:85; issue:3; firstpage:394; lastpage:400; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11571/202011Test

الإتاحة: http://hdl.handle.net/11571/202011Test

المؤلفون: Scuderi C, Fichera M, Calabrese G, Elia M, Amato C, Savio M, Borgione E, Vitello GA, Musumeci SA, Scuderi, C, Fichera, M, Calabrese, G, Elia, M, Amato, C, Savio, M, Borgione, E, Vitello, G A, Musumeci, S A

المصدر: Journal of Neurology, Neurosurgery & Psychiatry; Apr2009, Vol. 80 Issue 4, p440-443, 4p

المؤلفون: Carmela Scuderi, Sebastiano Bianca, Valentino Romano, V. Chiavetta, Francesco Calì, P. Schinocca, Sebastiano A. Musumeci, Girolamo Aurelio Vitello, Giuseppa Ruggeri, Chiara Barone, Alda Ragalmuto

المساهمون: Calì,F, Ruggeri,G, Chiavetta,V, Scuderi,C, Bianca,S, Barone,C, Ragalmuto,A, Schinocca,P, Vitello,GA, Romano,V, Musumeci,S

المصدر: Journal of Genetics. 93:179-181

مصطلحات موضوعية: Heterozygote, Genetic counseling, Gene Dosage, Physiology, carrier screening, Prenatal diagnosis, SMN1, Biology, Carrier testing, Muscular Atrophy, Spinal, Atrophy, Gene Frequency, Settore BIO/13 - Biologia Applicata, Prevalence, Genetics, medicine, Humans, Genetic Testing, spinal muscular atrophy, survival motor neuron gene (SMN1), MLPA, Exons, Spinal muscular atrophy, Motor neuron, SMA, medicine.disease, Survival of Motor Neuron 1 Protein, medicine.anatomical_structure, Italy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3533e8ee46ae100e9cb63e1cd5372aa0Test
https://doi.org/10.1007/s12041-014-0323-xTest