Showing 1 - 2 results of 2 for search 'Reha M. Toydemir', query time: 0.02s Refine Results
  1. 1
    Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

    Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome by Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, Cecilia Evangelisti, Simona Ferrari, Maria Accadia, Reha M. Toydemir, Emanuele Panza, Emanuele Panza

    Published 2023-02-01
    Get full text
    Article
  2. 2
    Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

    Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia by Thomas J. Nicholas, Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak‐Toydemir, Christine E. Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J. Hernandez, Michael J. Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L. Bonkowsky, Martin Tristani‐Firouzi, Mark Yandell, Gabor Marth, Aaron R. Quinlan, Luca Brunelli, Reha M. Toydemir, Brian J. Shayota, John C. Carey, Steven E. Boyden, Sabrina Malone Jenkins

    Published 2022-04-01
    Get full text
    Article

Search Tools: