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Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia
Download from www.ncbi.nlm.nih.govThe expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
Download from www.nature.comA syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
Download from eprints.soton.ac.ukClinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome
Download from www.researchgate.netNew insights into genotype-phenotype correlation for GLI3 mutations
Download from www.nature.comCongenital Heart Defects in Patients with Deletions Upstream ofSOX9
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