يعرض 1 - 7 نتائج من 7 نتيجة بحث عن '"Saccuzzo, Lucia"', وقت الاستعلام: 0.72s تنقيح النتائج
  1. 1
    دورية أكاديمية
    PARK2 microdeletion in a multiplex family with autism spectrum disorder

    المؤلفون: Barone, Rita, Cirnigliaro, Lara, Saccuzzo, Lucia, Valdese, Silvia, Pettinato, Fabio, Prato, Adriana, Bernardini, Laura, Fichera, Marco, Rizzo, Renata

    المصدر: International Journal of Developmental Neuroscience ; volume 83, issue 1, page 121-131 ; ISSN 0736-5748 1873-474X

    الإتاحة: https://doi.org/10.1002/jdn.10246Test

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  2. 2
    دورية أكاديمية
    Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome

    المؤلفون: Fichera, Marco, Saccuzzo, Lucia, Bertuzzo, Sara, Marelli, Susan, Cavallini, Anna, Romaniello, Romina, Kocova, Mirjana, Citterio, Andrea, Fanizza, Isabella, Trabacca, Antonio, Pagliazzi, Angelica, Guarducci, Silvia, Giglio, Sabrina, Zuffardi, Orsetta, Bonaglia, Maria Clara

    المساهمون: Fichera, Marco, Saccuzzo, Lucia, Bertuzzo, Sara, Marelli, Susan, Cavallini, Anna, Romaniello, Romina, Kocova, Mirjana, Citterio, Andrea, Fanizza, Isabella, Trabacca, Antonio, Pagliazzi, Angelica, Guarducci, Silvia, Giglio, Sabrina, Zuffardi, Orsetta, Bonaglia, Maria Clara

    مصطلحات موضوعية: PBX1, Genotype-phenotype, Haploinsufficiency, Incomplete penetrance, ATP1B1, Microcephaly, Contiguous gene syndrome

    العلاقة: volume:4; issue:3; firstpage:114; lastpage:132; numberofpages:19; journal:JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICS; http://hdl.handle.net/11584/311207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148449917

    الإتاحة: https://doi.org/10.20517/jtgg.2020.16Test
    http://hdl.handle.net/11584/311207Test

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  3. 3
    دورية أكاديمية
    Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.

    المؤلفون: Miceli, Martina, Failla, Pinella, Saccuzzo, Lucia, Galesi, Ornella, Amata, Silvestra, Romano, Corrado, Bonaglia, Maria Clara, Fichera, Marco

    المصدر: Genes & Genomics; Apr2023, Vol. 45 Issue 4, p491-505, 15p


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  4. 4
    دورية أكاديمية
    Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting.

    المؤلفون: Saia, Federica, Prato, Adriana, Saccuzzo, Lucia, Madia, Francesca, Barone, Rita, Fichera, Marco, Rizzo, Renata

    المصدر: Genes; Feb2023, Vol. 14 Issue 2, p500, 12p

    مصطلحات موضوعية: TOURETTE syndrome, TIC disorders, CHILD patients, SYNDROMES in children, GENETIC disorders

    النص الكامل

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  5. 5
    دورية أكاديمية
    PARK2 microdeletion in a multiplex family with autism spectrum disorder.

    المؤلفون: Barone, Rita, Cirnigliaro, Lara, Saccuzzo, Lucia, Valdese, Silvia, Pettinato, Fabio, Prato, Adriana, Bernardini, Laura, Fichera, Marco, Rizzo, Renata

    المصدر: International Journal of Developmental Neuroscience; Feb2023, Vol. 83 Issue 1, p121-131, 11p


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  6. 6
    دورية أكاديمية
    Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

    المؤلفون: Fichera, Marco, Failla, Pinella, Saccuzzo, Lucia, Miceli, Martina, Salvo, Eliana, Castiglia, Lucia, Galesi, Ornella, Grillo, Lucia, Calì, Francesco, Greco, Donatella, Amato, Carmelo, Romano, Corrado, Elia, Maurizio

    المساهمون: Italian Ministry of Health

    المصدر: Human Genetics ; volume 138, issue 2, page 187-198 ; ISSN 0340-6717 1432-1203

    مصطلحات موضوعية: Genetics (clinical), Genetics

    الإتاحة: https://doi.org/10.1007/s00439-019-01972-3Test

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  7. 7
    دورية
    Biallelic intragenic duplication in ADGRB3(BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

    المؤلفون: Scuderi, Carmela, Saccuzzo, Lucia, Vinci, Mirella, Castiglia, Lucia, Galesi, Ornella, Salemi, Michele, Mattina, Teresa, Borgione, Eugenia, Città, Santina, Romano, Corrado, Fichera, Marco

    المصدر: European Journal of Human Genetics: EJHG; April 2019, Vol. 27 Issue: 4 p594-602, 9p

    النص الكامل

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