Search Results - Restaldi, Fabrizia

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  1. 1
    A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

    A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign by Restaldi, Fabrizia, Alesi, Viola, Aquilani, Angela, Genovese, Silvia, Russo, Serena, Coletti, Valentina, Pompili, Daniele, Falasca, Roberto, Dallapiccola, Bruno, Capolino, Rossella, Luciani, Matteo, Novelli, Antonio

    Published in Molecular cytogenetics
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  2. 2
    Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

    Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy by Sferra, Antonella, Fattori, Fabiana, Rizza, Teresa, Flex, Elsabetta, Bellacchio, Emanuele, Bruselles, Alessandro, Petrini, Stefania, Cecchetti, Serena, Teson, Massimo, Restaldi, Fabrizia, Ciolfi, Andrea, Santorelli, Filippo M, Zanni, Ginevra, Barresi, Sabina, Castiglioni, Claudia, Tartaglia, Marco, Bertini, Enrico

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  3. 3
    Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging

    Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging by Petrini, Stefania, Borghi, Rossella, D'Oria, Valentina, Restaldi, Fabrizia, Moreno, Sandra, Novelli, Antonio, Bertini, Enrico, Compagnucci, Claudia

    Published in Aging (Albany, NY.)
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  4. 4
    Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations

    Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Exam... by Libotte, Francesco, Carpineto, Sonia Lorena, Dello Russo, Claudio, Viola, Antonella, Margiotti, Katia, Restaldi, Fabrizia, Novelli, Antonio, Mesoraca, Alvaro, Giorlandino, Claudio

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  5. 5
    Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister–Killian syndrome

    Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister–Killian syndrome by Alesi, Viola, Dentici, Maria L., Restaldi, Fabrizia, Orlando, Valeria, Liambo, Maria T., Calacci, Chiara, Capolino, Rossella, Digilio, Maria C., El Hachem, May, Novelli, Antonio, Diociaiuti, Andrea, Dallapiccola, Bruno

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  6. 6
    A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

    A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign by Restaldi, Fabrizia, Alesi, Viola, Aquilani, Angela, Genovese, Silvia, Russo, Serena, Coletti, Valentina, Pompili, Daniele, Falasca, Roberto, Dallapiccola, Bruno, Capolino, Rossella, Luciani, Matteo, Novelli, Antonio

    Published in Molecular cytogenetics
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