يعرض 1 - 10 نتائج من 121 نتيجة بحث عن '"Spaccini, L."', وقت الاستعلام: 1.58s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study

    المؤلفون: Costanzo, S, Spaccini, L, Pio, L, Mattioli, G, Virgone, C, Dall'Igna, P, Iacobelli, B, Inserra, A, Brisighelli, G, Fagnani, AM, Leva, E, Giannotti, G, Cheli, M, Frumento, P, Riccipetitoni, G

    المصدر: Journal of pediatric surgery. 52(10):1591-1596

    مصطلحات موضوعية: Medicin och hälsovetenskap

    الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:137071592Test

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  2. 2
    دورية أكاديمية
    Giant congenital fibroblastic connective tissue nevus associated with vascular anomalies.

    المؤلفون: Thanasi, H., Fabiano, A., Baraldini, V., Cattaneo, E., Spaccini, L., Napolitano, M., Collini, P., Moneghini, Laura

    المصدر: Journal of Cutaneous Pathology; Jul2024, Vol. 51 Issue 7, p485-489, 5p

    مصطلحات موضوعية: CONNECTIVE tissues, NEVUS, GROIN


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  3. 3
    دورية أكاديمية
    Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child

    المؤلفون: Faraguna M. C., Musto F., Crescitelli V., Iascone M., Spaccini L., Tonduti D., Fedeli T., Kullmann G., Canonico F., Cattoni A., Dell'acqua F., Rizzari C., Gasperini S.

    المساهمون: Faraguna, M, Musto, F, Crescitelli, V, Iascone, M, Spaccini, L, Tonduti, D, Fedeli, T, Kullmann, G, Canonico, F, Cattoni, A, Dell'Acqua, F, Rizzari, C, Gasperini, S

    مصطلحات موضوعية: Leukoencephalopathy, Lysosomal storage disease, Mucopolysaccharidosis-plu, Secondary hemophagocytic lymphohistiocytosi

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35327996; info:eu-repo/semantics/altIdentifier/wos/WOS:000775304500001; volume:13; issue:3; journal:GENES; http://hdl.handle.net/10281/364340Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85126482767

    الإتاحة: https://doi.org/10.3390/genes13030442Test
    http://hdl.handle.net/10281/364340Test

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  4. 4
    دورية أكاديمية
    Autosomal dominant hypophosphatemic rickets: A case report and review of the literature

    المؤلفون: Mameli C., Sangiorgio A., Colombo V., Gambino M., Spaccini L., Cattaneo E., Zuccotti G. V.

    المساهمون: C. Mameli, A. Sangiorgio, V. Colombo, M. Gambino, L. Spaccini, E. Cattaneo, G.V. Zuccotti

    مصطلحات موضوعية: Children, Fibroblast growth factor 23 gene, Hypophosphatemia, Ricket, Child, Female, Human, Infant, Iron, Male, Mutation, Phosphate, Familial Hypophosphatemic Ricket, Fibroblast Growth Factors, Settore MED/38 - Pediatria Generale e Specialistica

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34444516; info:eu-repo/semantics/altIdentifier/wos/WOS:000689112000001; volume:18; issue:16; firstpage:1; lastpage:10; numberofpages:10; journal:INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH; http://hdl.handle.net/2434/864656Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112780270

    الإتاحة: https://doi.org/10.3390/ijerph18168771Test
    http://hdl.handle.net/2434/864656Test

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  5. 5
    دورية أكاديمية
    L1CAM variants cause two distinct imaging phenotypes on fetal MRI

    المؤلفون: Accogli, A, Goergen, S, Izzo, G, Mankad, K, Haratz, KK, Parazzini, C, Fahey, M, Menzies, L, Baptista, J, Carpineta, L, Tortora, D, Fulcheri, E, Vellone, VG, Paladini, D, Spaccini, L, Toto, V, Trayers, C, Ben Sira, L, Reches, A, Malinger, G, Salpietro, V, De Marco, P, Srour, M, Zara, F, Capra, V, Rossi, A, Severino, M

    العلاقة: Accogli, A., Goergen, S., Izzo, G., Mankad, K., Haratz, K. K., Parazzini, C., Fahey, M., Menzies, L., Baptista, J., Carpineta, L., Tortora, D., Fulcheri, E., Vellone, V. G., Paladini, D., Spaccini, L., Toto, V., Trayers, C., Ben Sira, L., Reches, A. ,. Severino, M. (2021). L1CAM variants cause two distinct imaging phenotypes on fetal MRI. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 8 (10), pp.2004-2012. https://doi.org/10.1002/acn3.51448Test.; http://hdl.handle.net/11343/301749Test

    الإتاحة: https://doi.org/10.1002/acn3.51448Test
    http://hdl.handle.net/11343/301749Test

    View record in BASE النص الكامل

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  6. 6
    دورية أكاديمية
    L1CAM variants cause two distinct imaging phenotypes on fetal MRI

    المؤلفون: Accogli, A., Goergen, S., Izzo, G., Mankad, K., Krajden Haratz, K., Parazzini, C., Fahey, M., Menzies, L., Baptista, J., Carpineta, L., Tortora, D., Fulcheri, E., Gaetano Vellone, V., Paladini, D., Spaccini, L., Toto, V., Trayers, C., Ben Sira, L., Reches, A., Malinger, G., Salpietro, V., De Marco, P., Srour, M., Zara, F., Capra, V., Rossi, A., Severino, M.

    العلاقة: https://doi.org/10.1002/acn3.51448Test; Ann Clin Transl Neurol. 2021 Sep 12. doi:10.1002/acn3.51448.; https://rde.dspace-express.com/handle/11287/622130Test; Annals of clinical and translational neurology

    الإتاحة: https://doi.org/10.1002/acn3.51448Test
    https://rde.dspace-express.com/handle/11287/622130Test

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  7. 7
    دورية أكاديمية
    CD10 and CD34 as markers in vascular malformations with PIK3CA and TEK mutations

    المؤلفون: Moneghini L., Tosi D., Graziani D., Caretti A., Colletti G., Baraldini V., Cattaneo E., Spaccini L., Zocca A., Bulfamante G. P.

    المساهمون: L. Moneghini, D. Tosi, D. Graziani, A. Caretti, G. Colletti, V. Baraldini, E. Cattaneo, L. Spaccini, A. Zocca, G.P. Bulfamante

    مصطلحات موضوعية: CD10 and CD34 expression, PIK3CA-mTOR pathway, Vascular malformations, Settore MED/08 - Anatomia Patologica, Settore BIO/10 - Biochimica, Settore BIO/11 - Biologia Molecolare

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32272124; info:eu-repo/semantics/altIdentifier/wos/WOS:000537628100011; volume:99; firstpage:98; lastpage:106; numberofpages:9; journal:HUMAN PATHOLOGY; http://hdl.handle.net/2434/751553Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084056998

    الإتاحة: https://doi.org/10.1016/j.humpath.2020.04.001Test
    http://hdl.handle.net/2434/751553Test

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  8. 8
    دورية أكاديمية
    Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

    المؤلفون: Villa R., Fergnani V. G. C., Silipigni R., Guerneri S., Cinnante C., Guala A., Danesino C., Scola E., Conte G., Fumagalli M., Gangi S., Colombo L., Picciolini O., Ajmone P. F., Accogli A., Madia F., Tassano E., Scala M., Capra V., Srour M., Spaccini L., Righini A., Greco D., Castiglia L., Romano C., Bedeschi M. F.

    المساهمون: R. Villa, V.G.C. Fergnani, R. Silipigni, S. Guerneri, C. Cinnante, A. Guala, C. Danesino, E. Scola, G. Conte, M. Fumagalli, S. Gangi, L. Colombo, O. Picciolini, P.F. Ajmone, A. Accogli, F. Madia, E. Tassano, M. Scala, V. Capra, M. Srour, L. Spaccini, A. Righini, D. Greco, L. Castiglia, C. Romano, M.F. Bedeschi

    مصطلحات موضوعية: 5p deletion, Brain MRI, Cri-du-chat syndrome, Neuroradiological phenotype, Pontine hypoplasia, Settore MED/38 - Pediatria Generale e Specialistica

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32800423; info:eu-repo/semantics/altIdentifier/wos/WOS:000579769100017; volume:28; firstpage:110; lastpage:119; numberofpages:10; journal:EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY; http://hdl.handle.net/2434/782446Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089357171

    الإتاحة: https://doi.org/10.1016/j.ejpn.2020.07.002Test
    http://hdl.handle.net/2434/782446Test

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  9. 9
    دورية أكاديمية
    VP25.24: Fetal ultrasound, MR imaging and MR autopsy in Cri du chat syndrome: two case reports and review of the literature

    المؤلفون: Faiola, S., Rosina, E., Spina, R., Spaccini, L., Lanna, M., Izzo, G., Laoreti, A., Casati, D., Rustico, M.

    مصطلحات موضوعية: Obstetrics and Gynecology, Radiology, Nuclear Medicine and imaging, Reproductive Medicine, General Medicine, Radiological and Ultrasound Technology

    العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/190826Test

    الإتاحة: https://doi.org/10.1002/uog.22735Test
    https://www.openaccessrepository.it/record/190826Test

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  10. 10
    دورية أكاديمية
    Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes

    المؤلفون: Cogliati F., Giorgini V., Masciadri M., Bonati M. T., Marchi M., Cracco I., Gentilini D., Peron A., Savini M. N., Spaccini L., Scelsa B., Maitz S., Veneselli E., PRATO, GIADA, Pintaudi M., Moroni I., Vignoli A., Larizza L., Russo S.

    المساهمون: F. Cogliati, V. Giorgini, M. Masciadri, M.T. Bonati, M. Marchi, I. Cracco, D. Gentilini, A. Peron, M.N. Savini, L. Spaccini, B. Scelsa, S. Maitz, E. Veneselli, G. Prato, M. Pintaudi, I. Moroni, A. Vignoli, L. Larizza, S. Russo

    مصطلحات موضوعية: Atypical RTT, GABAa receptors gene, NGS, STXBP1, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/03 - Genetica Medica

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31344879; info:eu-repo/semantics/altIdentifier/wos/WOS:000482383000014; volume:20; issue:15; firstpage:1; lastpage:18; numberofpages:18; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/2434/686376Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070609640

    الإتاحة: https://doi.org/10.3390/ijms20153621Test
    http://hdl.handle.net/2434/686376Test

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