Search Results - Maria Bulakh

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    The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy by Olga Shatokhina, Fatima Bostanova, Maria Bulakh, Anastasia Beresneva, Oxana Ryzhkova

    Published 2024
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    Artículo Open Access

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    Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy by Elena Zinina, Maria Bulakh, Alena Chukhrova, Oksana Ryzhkova, Olga Shchagina, Aleksander Polyakov

    Published 2025
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    Prenatal‐Onset Autosomal Dominant Polycystic Kidney Disease: Clinical Spectrum and Genetic Complexity of a Pseudo‐Recessive Phenotype by Margarita Sharova, Marina Shumikchina, Larisa Prikhodina, Sergey Morozov, Maria Bulakh, Oxana Ryzhkova, Dmitry Pustoshilov, Natalia Semenova

    Published 2025
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