• Dyggve-Melchior-Clausen syndrome
• Familial cutaneous cylindromas: investigations in five generations of a family
• Genotype-phenotype correlation in patients suspected of having Sotos syndrome
• Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
• Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
• Oculocerebrocutaneous syndrome
• Short rib syndrome--Beemer type in sibs
• Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
• The cerebro-costo-mandibular syndrome: third report of familial occurrence
• The CHARGE association; a combination of congenital abnormalities
• The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes
• Thoracic pelvic phalangeal dystrophy (Jeune's syndrome)
• tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia