Symposium introduction†
Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management†
Neonatal phenotype in Kabuki syndrome†, ‡
Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: A preliminary study
Expressive language in children with Kabuki syndrome
Autoimmune disorders in Kabuki syndrome
Developmental outcome in Kabuki syndrome†, ‡
Further delineation of Kabuki syndrome in 48 well-defined new individuals†
Symptomatic Chiari I malformation in Kabuki syndrome
Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene
Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families†
Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes
Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without clef palate cases
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III
Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases
Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature—is sonic hedgehog the common pathway?†, ‡
Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia
Natural history of cardiac involvement in geleophysic dysplasia
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome†
Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes
High prevalence of isolated pericardial effusion in Down syndrome
The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy
Unique survival in chrondrodysplasia-hermaphrodism syndrome
Iris heterochromia: A variable feature in Verloes–Koulischer-oral-acral syndrome
Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: A new constellation or deletion in chromosome 22q11.2?
Prenatal diagnosis of a double trisomy 48, XXY, +13: Klinefelter and Patau syndromes