• <em>P4HB</em> recurrent missense mutation causing Cole-Carpenter syndrome
• A molecular dynamics approach on the Y393C variant of protein disulfide isomerase A1
• Autoimmune disease and COVID-19: a multicentre observational study in the United Kingdom
• Case report: Clinical manifestations and genotype analysis of a child with <em>PTPN11</em> and <em>SEC24D</em> mutations
• Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
• Cole-Carpenter syndrome in a patient from Thailand
• Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
• Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report
• Cole-Carpenter's syndrome
• Craniosynostosis update 1987
• CRTAP mutation in a patient with Cole-Carpenter syndrome
• Familial myopathy with changes resembling inclusion body myositis and periventricular leucoencephalopathy. A new syndrome
• Incidence of the deficit form in refractory schizophrenia
• Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D
• Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta
• New case of Cole-Carpenter syndrome
• Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus
• P4HB recurrent missense mutation causing Cole-Carpenter syndrome
• Pharmacomechanical Catheter-Directed Thrombolysis for Deep-Vein Thrombosis
• Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report
• Three cases of systemic atypical granulomatous disease in moluccan cockatoos (Cacatua moluccensis): a new syndrome