Ohcanbohtosat - Tomasz Gambin

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  1. 1
    Bearbmagovva

    A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report... Dahkki Justyna A. Karolak, Tomasz Gambin, Engela M. Honey, Tomas Slavik, Edwina Popek, Paweł Stankiewicz

    Almmustuhtton 2020
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  2. 2
    Bearbmagovva

    A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy Dahkki Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Pawel Gawlinski

    Almmustuhtton 2019
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