DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications
Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21
Association of genetic variation at the β-fibrinogen gene locus and plasma fibrinogen levels; interaction between allele frequency of the G/A-455polymorphism, age and smoking
DNA polymorphisms in linkage disequilibrium at the 3′ end of the human APO AII gene: relationships with lipids, apolipoproteins and coronary heart disease
Reduction of CAG expansions in cerebellar cortex and spinal cord of DRPLA
Rapid detection of a mutation hot-spot in the human androgen receptor
Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family
Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males
The Floating-Harbor syndrome: two affected siblings in a family
Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26)
Keipert syndrome in two brothers from Turkey
Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome?
Down syndrome associated with a retroperitoneal teratoma and Morgagni hernia
Siblings with congenital renal tubular acidosis and nerve deafness
COFS syndrome with familial 1;16 translocation
Life-threatening cardiac involvement throughout life in a case of Costello syndrome
A case report of 46,XX,del (21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome
Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome?
Desbuquois syndrome in an Arab Bedouin family
Further evidence for a syndrome of “apple peel” intestinal atresia, ocular anomalies and microcephaly
Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes
FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure
Familial translocation (X;3)(p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study
Clinical features in the Wiedemann-Beckwith syndrome
Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary
Antley-Bixler syndrome
Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome