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Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness
Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient
Mutation spectrum in Jewish cystic fibrosis patients in Israel: Implication to carrier screening
Variations of the CFTR gene in the Hanoi-Vietnamese
Three cases with de novo 6q imbalance and variable prenatal phenotype
Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: Cytogenetic and molecular analysis with delineation of the phenotype
Is Dandy–Walker malformation associated with “distal 13q deletion syndrome”? Findings in a fetus supporting previous observations
Association of Adams–Oliver syndrome with pulmonary arterio-venous malformation in the same family: A further support to the vascular hypothesis
Case reports of oculofaciocardiodental syndrome with unusual dental findings
DHCR7 mutations in Brazilian Smith–Lemli–Opitz syndrome patients
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart–Pumphrey syndrome
Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia
Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated