Showing 1 - 7 results of 7 for search 'Ester Di Muro', query time: 0.04s Refine Results
  1. 1
    A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

    A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features by Orazio Palumbo, Pietro Palumbo, Ester Di Muro, Luigia Cinque, Antonio Petracca, Massimo Carella, Marco Castori

    Published 2020-06-01
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  2. 2
    Compound Phenotype Due to Recessive Variants in <i>LARP7</i> and <i>OTOG</i> Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing

    Compound Phenotype Due to Recessive Variants in <i>LARP7</i> and <i>OTOG</i> Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing by Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Ester di Muro, Stefano Castellana, Luigi Bisceglia, Tommaso Mazza, Massimo Carella, Marco Castori

    Published 2020-03-01
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  3. 3
    Identification of a Novel <i>FOXP1</i> Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment

    Identification of a Novel <i>FOXP1</i> Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment by Mario Benvenuto, Pietro Palumbo, Ester Di Muro, Concetta Simona Perrotta, Tommaso Mazza, Giuseppa Maria Luana Mandarà, Orazio Palumbo, Massimo Carella

    Published 2023-10-01
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  4. 4
    Whole Exome Sequencing Reveals a Novel <i>AUTS2</i> In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies

    Whole Exome Sequencing Reveals a Novel <i>AUTS2</i> In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies by Pietro Palumbo, Ester Di Muro, Maria Accadia, Mario Benvenuto, Marilena Carmela Di Giacomo, Stefano Castellana, Tommaso Mazza, Marco Castori, Orazio Palumbo, Massimo Carella

    Published 2021-02-01
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  5. 5
    Novel <i>STAG1</i> Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder

    Novel <i>STAG1</i> Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder by Ester Di Muro, Pietro Palumbo, Mario Benvenuto, Maria Accadia, Marilena Carmela Di Giacomo, Sergio Manieri, Rosaria Abate, Maria Tagliente, Stefano Castellana, Tommaso Mazza, Massimo Carella, Orazio Palumbo

    Published 2021-07-01
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  6. 6
    The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate

    The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically i... by Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic

    Published 2020-05-01
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  7. 7
    Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease

    Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease by Giuseppe d'Orsi, Andrea Farolfi, Lorenzo Muccioli, Orazio Palumbo, Pietro Palumbo, Sergio Modoni, Vincenzo Allegri, Valentina Garibotto, Maria Teresa Di Claudio, Ester Di Muro, Mario Benvenuto, Francesca Bisulli, Francesca Bisulli, Massimo Carella

    Published 2023-06-01
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