Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec
Scintigraphic evaluation of Tc-99m-low-density lipoprotein (LDL) distribution in patients with Gaucher disease
Incomplete penetrance and expressivity skewing in hereditary multiple exostoses
Detection of dystrophin deletion carriers using FISH analysis
Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival
A new multiple malformation syndrome of Müllerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis
Cardio-facio-cutaneous (CFC) syndrome - a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome
Benign familial microcytic thrombocytosis with autosomal dominant transmission
Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness?
A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin
Interstitial deletion 2 (p11.2p13): a rare chromosomal abnormality
Essential hyperhidrosis in Turner syndrome
A T>C transition causing a Leu>Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient
A polymorphism in intron 6 of the CYP17 gene