يعرض 1 - 10 نتائج من 55 نتيجة بحث عن '"Musumeci SA"', وقت الاستعلام: 0.98s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

    المؤلفون: Lionel, AC, Tammimies, K, Vaags, AK, Rosenfeld, JA, Ahn, JW, Merico, D, Noor, A, Runke, CK, Pillalamarri, VK, Carter, MT, Gazzellone, MJ, Thiruvahindrapuram, B, Fagerberg, C, Laulund, LW, Pellecchia, G, Lamoureux, S, Deshpande, C, Clayton-Smith, J, White, AC, Leather, S, Trounce, J, Bedford, HM, Hatchwell, E, Eis, PS, Yuen, RKC, Walker, S, Uddin, M, Geraghty, MT, Nikkel, SM, Tomiak, EM, Fernandez, BA, Soreni, N, Crosbie, J, Arnold, PD, Schachar, RJ, Roberts, W, Paterson, AD, So, J, Szatmari, P, Chrysler, C, Woodbury-Smith, M, Lowry, RB, Zwaigenbaum, L, Mandyam, D, Wei, J, MacDonald, JR, Howe, JL, Nalpathamkalam, T, Wang, ZZ, Tolson, D, Cobb, DS, Wilks, TM, Sorensen, MJ, Bader, PI, An, Y, Wu, BL, Musumeci, SA, Romano, C, Postorivo, D, Nardone, AM, Della Monica, M, Scarano, G, Zoccante, L, Novara, F, Zuffardi, O, Ciccone, R, Antona, V, Carella, M, Zelante, L, Cavalli, P, Poggiani, C, Cavallari, U, Argiropoulos, B, Chernos, J, Brasch-Andersen, C, Speevak, M, Fichera, M, Ogilvie, CM, Shen, YP, Hodge, JC, Talkowski, ME, Stavropoulos, DJ, Marshall, CR, Scherer, SW

    المصدر: Human molecular genetics. 23(10):2752-2768

    مصطلحات موضوعية: Medicin och hälsovetenskap

    الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:128745380Test

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  2. 2
    دورية أكاديمية
    Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

    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

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  3. 3
    دورية أكاديمية
    PHF21A Related Disorder: Description of a New Case

    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

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  4. 4
    دورية أكاديمية
    A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype

    المؤلفون: Nicotera A, Spoto G, Cali F, Romeo G, Musumeci A, Vinci M, Fiumara A, Barone R, Di Rosa G, Musumeci SA

    المساهمون: Nicotera, A, Spoto, G, Cali, F, Romeo, G, Musumeci, A, Vinci, M, Fiumara, A, Barone, R, Di Rosa, G, Musumeci, Sa

    مصطلحات موضوعية: Congenital disorders of glycosylation, Developmental delay, Mild phenotype, Missense mutation

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34602961; info:eu-repo/semantics/altIdentifier/wos/000677882300001; volume:12; firstpage:327; lastpage:332; numberofpages:6; journal:MOLECULAR SYNDROMOLOGY; http://hdl.handle.net/11570/3207084Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111569405

    الإتاحة: https://doi.org/10.1159/000516606Test
    http://hdl.handle.net/11570/3207084Test

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  5. 5
    دورية أكاديمية
    Activation of 5-HT7 serotonin receptors reverses metabotropic glutamate receptor-mediated synaptic plasticity in wild-type and Fmr1 knockout mice, a model of Fragile X syndrome.

    المؤلفون: COSTA, LARA TANIA, Spatuzza M, D'Antoni S, Bonaccorso CM, Trovato C, Musumeci SA, Leopoldo M, Lacivita E, Catania MV, Ciranna L.

    المساهمون: Costa L, Spatuzza M, D'Antoni S, Bonaccorso CM, Trovato C, Musumeci SA, Leopoldo M, Lacivita E, Catania MV, Ciranna L

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22817866; info:eu-repo/semantics/altIdentifier/wos/WOS:000310598300010; volume:72(11); firstpage:924; lastpage:933; journal:BIOLOGICAL PSYCHIATRY; http://hdl.handle.net/11570/2500858Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84868198902

    الإتاحة: https://doi.org/10.1016/j.biopsych.2012.06.008Test
    http://hdl.handle.net/11570/2500858Test

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  6. 6
    دورية أكاديمية
    5-HT(1A) and 5-HT(7) receptors differently modulate AMPA receptor-mediated hippocampal synaptic transmission.

    المؤلفون: COSTA, LARA TANIA, Trovato C, Musumeci SA, Catania MV, Ciranna L.

    المساهمون: Costa, LARA TANIA, Trovato, C, Musumeci, Sa, Catania, Mv, Ciranna, L.

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21538661; info:eu-repo/semantics/altIdentifier/wos/WOS:000301776200012; volume:22(4); firstpage:790; lastpage:801; journal:HIPPOCAMPUS; http://hdl.handle.net/11570/2500859Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84858747369

    الإتاحة: https://doi.org/10.1002/hipo.20940Test
    http://hdl.handle.net/11570/2500859Test

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  7. 7
    مؤتمر
    NON-LINEAR EEG MEASURES DURING CYCLIC ALTERNATING PATTERN (CAP) AND NONCAP SLEEP. . (vol. 23, pp. 123)

    المؤلفون: FERRI R, SMERIERI A, ELIA M, MUSUMECI SA, PETTINATO S, STAM C.J., PARRINO, Liborio, TERZANO, Mario Giovanni

    المساهمون: Ferri, R, Parrino, Liborio, Smerieri, A, Terzano, Mario Giovanni, Elia, M, Musumeci, Sa, Pettinato, S, Stam, C. J.

    العلاقة: APSS 14th Annual Meeting; volume:23; firstpage:153; lastpage:153; http://hdl.handle.net/11381/1459392Test

    الإتاحة: http://hdl.handle.net/11381/1459392Test

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  8. 8
    دورية أكاديمية
    Definition of the neurological phenotype associated with dup(X)(p11.22-p11.23)

    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

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  9. 9
    دورية أكاديمية
    Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

    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

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  10. 10
    دورية أكاديمية
    CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

    المؤلفون: ELIA M, FALCO M, FERRI R, SPALLETTA A, BOTTITTA M, CALABRESE G, MUSUMECI SA, LO GIUDICE M, FICHERA M., CAROTENUTO, Marco

    المساهمون: Elia, M, Falco, M, Ferri, R, Spalletta, A, Bottitta, M, Calabrese, G, Carotenuto, Marco, Musumeci, Sa, LO GIUDICE, M, Fichera, M.

    مصطلحات موضوعية: CDKL5, Intractable epilepsy, severe encephalopathy

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18809835; info:eu-repo/semantics/altIdentifier/wos/WOS:000259402500008; volume:71; issue:13; firstpage:997; lastpage:999; numberofpages:3; journal:NEUROLOGY; http://hdl.handle.net/11591/194113Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-54049089062; http://www.neurology.org/cgi/content/full/71/13/997Test

    الإتاحة: https://doi.org/10.1212/01.wnl.0000326592.37105.88Test
    http://hdl.handle.net/11591/194113Test
    http://www.neurology.org/cgi/content/full/71/13/997Test

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