Refreshing results…
Nicolaides-Baraitser Syndrome: Delineation of the Phenotype
Download from www.researchgate.netDYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
Download from doi.orgMutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications
Download from www.ncbi.nlm.nih.govElements of morphology: Standard terminology for the nose and philtrum
Download from onlinelibrary.wiley.comA large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Download from www.nature.comThe mutation spectrum in RECQL4 diseases
Download from www.nature.comLong-term follow-up in Stuve-Wiedemann syndrome: A clinical report
Download from www.researchgate.netMissing publications? Search for publications with a matching author name.