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Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes
Download from www.ncbi.nlm.nih.govThree Patients Resembling Teebi-Shaltout Syndrome
Download from www.researchgate.netMutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome
Download from www.ncbi.nlm.nih.govAttenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
Download from www.ncbi.nlm.nih.govDisruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome
Download from www.ncbi.nlm.nih.govKIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Download from www.ncbi.nlm.nih.govALX4 dysfunction disrupts craniofacial and epidermal development
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