Showing 1 - 2 results of 2 for search 'Krzysztof Szczałuba', query time: 0.02s Refine Results
  1. 1
    Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review

    Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review by Snir Boniel, Maria Krajewska, Beata Pyrżak, Monika Paluchowska, Anna Majcher, Magdalena Zarlenga, Katarzyna Krenke, Robert Śmigiel, Anetta Jeziorek, Krystyna Szymańska, Krzysztof Szczałuba

    Published 2024-07-01
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  2. 2
    Brain Tissue Low-Level Mosaicism for <i>MTOR</i> Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue

    Brain Tissue Low-Level Mosaicism for <i>MTOR</i> Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affec... by Krzysztof Szczałuba, Małgorzata Rydzanicz, Anna Walczak, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Katarzyna Iwanicka-Pronicka, Wiesława Grajkowska, Elżbieta Jurkiewicz, Paweł Kowalczyk, Rafał Płoski

    Published 2021-07-01
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