Hasil Pencarian - Deepa Saravanakumar

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  1. 1
    P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort

    P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort oleh Tobias Boettcher, Christian Beetz, Daniel Schulze, Deepa Saravanakumar, Emir Zonic, Sabine Schroeder, Anett Kaune, Omid Paknia, Jorge Pinto Basto, Peter Bauer

    Diterbitkan 2024-01-01
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  2. 2
    Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

    Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center oleh Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, Christian Beetz

    Diterbitkan 2022-05-01
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  3. 3
    Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

    Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing oleh Emir Zonic, Mariana Ferreira, Luba M. Pardo, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Natalia Ordonez-Herrera, Deepa Saravanakumar, Ligia S. Almeida, Inês C. Fernandes, Nishtha Gulati, Sumanth Mannepalli, Amela Hercegovac, Ruslan Al-Ali, Catarina Pereira, Omid Paknia, Uros Hladnik, Peter Bauer, Jorge Pinto Basto, Aida M. Bertoli-Avella

    Diterbitkan 2023-01-01
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