Hasil Pencarian - Emanuela Salzano

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  1. 1
    12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

    12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature oleh Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione

    Diterbitkan 2020-07-01
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  2. 2
    Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene

    Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene oleh Francesca Mercadante, Ettore Piro, Martina Busè, Emanuela Salzano, Arturo Ferrara, Gregorio Serra, Cristina Passarello, Giovanni Corsello, Maria Piccione

    Diterbitkan 2022-08-01
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  3. 3
    Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

    Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly oleh Emanuela Salzano, Marcello Niceta, Simone Pizzi, Francesca Clementina Radio, Martina Busè, Francesca Mercadante, Sabina Barresi, Arturo Ferrara, Cecilia Mancini, Marco Tartaglia, Maria Piccione, Maria Piccione

    Diterbitkan 2023-02-01
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  4. 4
    Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid

    Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid oleh Margherita Vinciguerra, Filippo Leto, Filippo Cassarà, Viviana Tartaglia, Michela Malacarne, Domenico Coviello, Valentina Cigna, Emanuela Orlandi, Francesco Picciotto, Gaspare Cucinella, Emanuela Salzano, Maria Piccione, Aurelio Maggio, Antonino Giambona

    Diterbitkan 2022-12-01
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  5. 5
    Further Delineation of Duplications of <i>ARX</i> Locus Detected in Male Patients with Varying Degrees of Intellectual Disability

    Further Delineation of Duplications of <i>ARX</i> Locus Detected in Male Patients with Varying Degrees of Intellectual Disability oleh Loredana Poeta, Michela Malacarne, Agnese Padula, Denise Drongitis, Lucia Verrillo, Maria Brigida Lioi, Andrea M. Chiariello, Simona Bianco, Mario Nicodemi, Maria Piccione, Emanuela Salzano, Domenico Coviello, Maria Giuseppina Miano

    Diterbitkan 2022-03-01
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