يعرض 1 - 6 نتائج من 6 نتيجة بحث عن '"Nardone A."', وقت الاستعلام: 1.33s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

    المؤلفون: Tedesco, Maria Giovanna, Lonardo, Fortunato, Ceccarini, Caterina, Cesarano, Carla, Digilio, Maria Cristina, Magliozzi, Monia, Rogaia, Daniela, Mencarelli, Amedea, Leoni, Chiara, Piscopo, Carmelo, Imperatore, Valentina, Falco, Maria Teresa, Fontana, Paolo, Nardone, Anna Maria, Novelli, Antonio, Troiani, Stefania, Seri, Marco, Prontera, Paolo

    المصدر: American Journal of Medical Genetics. Part A; Apr2021, Vol. 185 Issue 4, p1204-1210, 7p


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  2. 2
    دورية أكاديمية
    Tremor is a major feature of 9p13 deletion syndrome.

    المؤلفون: Ferreira, Susana Isabel, Cinnirella, Giacomo, Ramos, Lina, Suppa, Antonio, Pires, Luís Miguel, Nardone, Anna Maria, Camerota, Letizia, Lanciotti, Silvia, Galasso, Cinzia, De Maio, Fernando, Melo, Joana Barbosa, Carreira, Isabel Marques, Brancati, Francesco

    المصدر: American Journal of Medical Genetics. Part A; Nov2020, Vol. 182 Issue 11, p2694-2698, 5p


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  3. 3
    دورية أكاديمية
    Small 4p16.3 deletions: Three additional patients and review of the literature.

    المؤلفون: Bernardini, Laura, Radio, Francesca C., Acquaviva, Fabio, Gorgone, Cristina, Postorivo, Diana, Torres, Barbara, Alesi, Viola, Magliozzi, Monia, Lonardo, Fortunato, Monica, Matteo Della, Nardone, Anna M., Cesario, Claudia, Mattina, Teresa, Scarano, Gioacchino, Dallapiccola, Bruno, Digilio, Maria C., Novelli, Antonio

    المصدر: American Journal of Medical Genetics. Part A; Nov2018, Vol. 176 Issue 11, p2501-2508, 8p


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  4. 4
    دورية أكاديمية
    First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

    المؤلفون: Acquaviva, Fabio, Sana, Maria Elena, Della Monica, Matteo, Pinelli, Michele, Postorivo, Diana, Fontana, Paolo, Falco, Maria Teresa, Nardone, Anna Maria, Lonardo, Fortunato, Iascone, Maria, Scarano, Gioacchino

    المصدر: American Journal of Medical Genetics. Part A; Jan2017, Vol. 173 Issue 1, p231-238, 8p


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  5. 5
    دورية أكاديمية
    Another patient with 12q13 microduplication Another patient with 12q13 microduplication.

    المؤلفون: Bertoli, M., Alesi, V., Gullotta, F., Zampatti, S., Abate, M.R., Palmieri, C., Novelli, A., Frontali, M., Nardone, A. M.

    المصدر: American Journal of Medical Genetics. Part A; Aug2013, Vol. 161A Issue 8, p2004-2008, 5p


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  6. 6
    دورية أكاديمية
    De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly

    المؤلفون: Resta, Nicoletta, De Cosmo, Lucrezia, Susca, Francesco Claudio, Capodiferro, Donatella, Nardone, Anna Maria, Pastorivo, Diana, Bertoli, Marta, Serlenga, Carmela, Burattini, MariaGabriella, Schettini, Federico, Laforgia, Nicola

    المصدر: American Journal of Medical Genetics. Part A; Mar2013, Vol. 161A Issue 3, p632-636, 5p


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