Hasil Pencarian - Moneef Shoukier

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  1. 1
    Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))

    Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)) oleh Gaetano Pietro Bulfamante, Laura Carpenito, Emma Bragantini, Silvia Graziani, Maria Bellizzi, Christoph Peter Bagowski, Moneef Shoukier, Francesca Rivieri, Massimo Soffiati, Mattia Barbareschi

    Diterbitkan 2021-06-01
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  2. 2
    Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the <i>PIGN</i> Gene—A Case Series

    Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the <i>PIGN</i> Gene—A Case Series oleh Aruna Marchetto, Susanne Leidescher, Theresia van Hoi, Niklas Hirschberger, Florian Vogel, Siegmund Köhler, Ivonne Alexandra Bedei, Roland Axt-Fliedner, Moneef Shoukier, Corinna Keil

    Diterbitkan 2024-05-01
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