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  1. Article

    Open Access

    Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

    Rare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. Investigation of disease-causing molecular features are most times lacking, although these inve...

    Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose in Human Genomics (2024)

  2. Article

    Open Access

    Geographic access to pediatric neurosurgeons in the USA: an analysis of sociodemographic factors

    Geographic access to physicians has been shown to be unevenly distributed in the USA, with those in closer proximity having superior outcomes. The purpose of this study was to describe how geographic access to...

    Daniel Farivar, Nicholas J. Peterman, Nakul Narendran in Child's Nervous System (2024)