Rady Children's Hospital San Diego
Hospital
Location:
San Diego, CA,
United States (USA) (US)
ISNI: 0000000403832910
ROR: https://ror.org/00414dg76
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024)
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al.
Journal article
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (2024)
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, et al.
Journal article
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling (2022)
Holtz AM, Vancoil R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, et al.
Journal article
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia (2020)
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, et al.
Journal article