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DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
Download from www.ncbi.nlm.nih.govMutations 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 www.researchgate.netA 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.netThromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
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