Showing 1 - 4 results of 4 for search 'Stefano Giuseppe Caraffi', query time: 0.03s Refine Results
  1. 1
    Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders

    Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders by Anna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, Gabriele Trimarchi, Manuela Napoli, Daniele Frattini, Carlotta Spagnoli, Livia Garavelli, Carlo Fusco

    Published 2024-03-01
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  2. 2
    Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

    Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures by Carlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, Susanna Rizzi, Camilla Cappelletti, Simone Pizzi, Daniele Frattini, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Marcello Niceta, Francesca Clementina Radio, Marco Tartaglia, Livia Garavelli, Carlo Fusco

    Published 2023-07-01
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  3. 3
    Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation

    Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: eviden... by Roberta Zuntini, Chiara Cattani, Lucia Pedace, Evelina Miele, Stefano Giuseppe Caraffi, Stefano Gardini, Elena Ficarelli, Simone Pizzi, Francesca Clementina Radio, Angelica Barone, Simonetta Piana, Patrizia Bertolini, Domenico Corradi, Maria Marinelli, Caterina Longo, Caterina Longo, Alberico Motolese, Orsetta Zuffardi, Marco Tartaglia, Livia Garavelli

    Published 2023-08-01
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  4. 4
    ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

    ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection by Ajay X. Thomas, Nichole Link, Laurie A. Robak, Gail Demmler‐Harrison, Emily C. Pao, Audrey E. Squire, Savannah Michels, Julie S. Cohen, Anne Comi, Paolo Prontera, Alberto Verrotti di Pianella, Giuseppe Di Cara, Livia Garavelli, Stefano Giuseppe Caraffi, Carlo Fusco, Roberta Zuntini, Kendall C. Parks, Elliott H. Sherr, Mais O. Hashem, Sateesh Maddirevula, Fowzan S. Alkuraya, Isphana A. F. Contractar, Jennifer E. Neil, Christopher A. Walsh, Hugo J. Bellen, Hsiao‐Tuan Chao, Robin D. Clark, Ghayda M. Mirzaa

    Published 2022-08-01
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