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Disruption of TWIST1 translation by 5′ UTR variants in Saethre-Chotzen syndrome
Download from doi.orgIdentification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
Download from www.nature.comDiagnostic value of exome and whole genome sequencing in craniosynostosis
Download from repub.eur.nlA Genetic-Pathophysiological Framework for Craniosynostosis
Download from europepmc.orgNew insights into craniofacial malformations
Download from europepmc.orgFactors influencing success of clinical genome sequencing across a broad spectrum of disorders
Download from www.nature.comPhenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
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