Showing 1 - 3 results of 3 for search 'Alicia Scocchia', query time: 0.03s Refine Results
  1. 1
    Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

    Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia by Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo

    Published 2021-10-01
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  2. 2
    P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants

    P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants by Alicia Scocchia, Allison Sluyters, Margarita Andreevskaya, Kirsi Alakurtti, Paivi Kokkonen, Kimberly Gall, Julie Hathaway, Victoria Howell, Lotta Koskinen, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

    Published 2023-01-01
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  3. 3
    P465: The occurrence of noncoding variants, copy number variants and variants in difficult-to-sequence genes in over 10,000 whole exome sequencing tests

    P465: The occurrence of noncoding variants, copy number variants and variants in difficult-to-sequence genes in over 10,000 whole exome sequencing tests by Kimberly Gall, Julie Hathaway, Victoria Howell, Alicia Scocchia, Allison Sluyters, Inka Saarinen, Tiia Kangas-Kontio, Milja Kaare, Kirsty Wells, Maria Calvo del Castillo, Mikko Muona, Tuuli Pietila, Matias Rantanen, Massimiliano Gentile, Pertelli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

    Published 2023-01-01
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    Article

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