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A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
Download from www.ncbi.nlm.nih.govHuman TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
Download from rupress.orgIFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
Download from www.researchgate.netSevere X-linked chondrodysplasia punctata in nine new female fetuses: Severe CDPX2 in female fetuses
UploadChondrodysplasias and TGFβ signaling
Download from europepmc.orgMutations in the NHEJ component XRCC4 cause primordial dwarfism
Download from www.researchgate.netMutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy
Download from link.springer.comThe expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
Download from www.nature.comC-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle
Download from www.nature.comHomozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
Download from www.ncbi.nlm.nih.govFurther delineation of the KAT6B molecular and phenotypic spectrum
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