Search Results - Isabella Borg

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  1. 1

    The Clinical Relevance of the Microbiome in Hidradenitis Suppurativa: A Systematic Review by Dillon Mintoff, Isabella Borg, Nikolai Paul Pace

    Published in Vaccines (2021-09-01)
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  2. 2

    A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation by Nikolai Paul Pace, Michael Pace Bardon, Isabella Borg

    Published in Molecular Genetics & Genomic Medicine (2020-12-01)
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  3. 3

    Two novel GJA1 variants in oculodentodigital dysplasia by Nikolai P. Pace, Valerie Benoit, David Agius, Maria Angela Grima, Raymond Parascandalo, Pascale Hilbert, Isabella Borg

    Published in Molecular Genetics & Genomic Medicine (2019-09-01)
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  4. 4

    A novel SPINK5 donor splice site variant in a child with Netherton syndrome by Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer

    Published in Molecular Genetics & Genomic Medicine (2021-03-01)
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  5. 5

    Quantitative Analysis of Conjunctival and Retinal Vessels in Fabry Disease by Andrea Sodi, Chiara Lenzetti, Daniela Bacherini, Lucia Finocchio, Tommaso Verdina, Isabella Borg, Francesca Cipollini, Fatema Ullah Patwary, Ilaria Tanini, Claudia Zoppetti, Stanislao Rizzo, Gianni Virgili

    Published in Journal of Ophthalmology (2019-01-01)
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