Showing 1 - 2 results of 2 for search 'Tomasz Gambin', query time: 0.02s Refine Results
  1. 1
    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

    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... by Justyna A. Karolak, Tomasz Gambin, Engela M. Honey, Tomas Slavik, Edwina Popek, Paweł Stankiewicz

    Published 2020
    Connect to this object online.
    Book
    Save to List
    Saved in:
  2. 2
    A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

    A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy by 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

    Published 2019
    Connect to this object online.
    Book
    Save to List
    Saved in:

Search Tools: