• Association of microphthalmia with esophageal atresia: report of two new patients and review of the literature
• Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion
• Dominant inheritance of Kabuki make-up syndrome
• Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
• Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation
• Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting
• Longitudinal growth and height velocity of Japanese children with Down's syndrome
• Noonan syndrome and cavernous hemangioma of the brain
• Paternal UPD14 is responsible for a distinctive malformation complex
• Pilomatrixomas in Rubinstein-Taybi syndrome
• Premature thelarche in Rubinstein-Taybi syndrome
• Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)
• Three Japanese children with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)
• Toriello-Carey syndrome with endocardial fibroelastosis
• Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation