Showing 1 - 3 results of 3 for search 'Leandra Folk', query time: 0.01s Refine Results
  1. 1
    Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay

    Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

    Published 2025-04-01
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  2. 2
    De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies

    De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies by Erfan Aref-Eshghi, Ingrid M. Wentzensen, Tawfeg Ben-Omran, Reem Ibrahim Bux, Nina B. Gold, Erin McRoy, Hoanh Nguyen, Lauren O’Grady, Shao Ching Tu, Yanmin Chen, Leandra Folk, Bobbi McGivern

    Published 2025-10-01
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  3. 3
    Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies

    Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies by Michelle M. Morrow, Erin Torti, Bobbi McGivern, Ryan Gates, Mir Reza Bekheirnia, Nasim Bekheirnia, Leandra Folk, Shannon Holtrop, Timothy Blake Palculict, Olivia L. Redlich, Adi Reich, Maria J. Guillen Sacoto, Lisong Shi, Ingrid M. Wentzensen, Kirsty McWalter

    Published 2025-07-01
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