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Journal of Medical Genetics|January 29, 2020
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesisAlicia B Byrne, Shuji Mizumoto, Peer Arts, et al.
Urology|July 30, 2020
RAS/MAPK Pathway Driver Alterations Are Significantly Associated With Oncogenic KIT Mutations in Germ-cell TumorsDouglas A Mata, Soo-Ryum Yang, Donna C Ferguson, et al.
JAMA Ophthalmology|May 8, 2025
Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA TestChuan Gao, Juber Patel, Melissa Robbins, et al.
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