Miriam Schmidts
Radboud university medical center
29 papers found
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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
Download from www.nature.comMutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
Download from www.ncbi.nlm.nih.govCongenital Central Hypothyroidism due to a Homozygous Mutation in theTSHβSubunit Gene
Download from doi.orgDeletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects
Download from www.ncbi.nlm.nih.govNephrin and CD2AP Associate with Phosphoinositide 3-OH Kinase and Stimulate AKT-Dependent Signaling
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