Publications

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Author Title [ Year(Desc)]
Filters: Keyword is Protein Stability  [Clear All Filters]
2014
Li, B. et al. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A 164A, 2407-11 (2014).
2015
Burrage, L. C. et al. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet 97, 904-13 (2015).
2021
Dianatpour, M. et al. Identification of homozygous mutations for hearing loss. Gene 778, 145464 (2021).