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Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ˜5 Mb deletion del(11)(q24.3)
Using second trimester ultrasound and maternal serum biomarker data to help detect congenital heart defects in pregnancies with positive triple-marker screening results
Hardikar syndrome: Long term outcome of a rare genetic disorder
Hardikar syndrome: New features
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1 , SIX6 , and OTX2 resulting from a complex chromosomal rearrangement
Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly
Agenesis of the corpus callosum in California 1983-2003: A population-based study
Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients
Genotype-phenotype correlations in Rubinstein-Taybi syndrome
High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita
Seizure frequency in adults with Wolf-Hirschhorn syndrome
Perlman syndrome: Report, prenatal findings and review
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression
Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia
Laurin-Sandrow syndrome: Review and redefinition
Short 9q interstitial deletion in a neonate with lethal non-immune hydrops
A cryptic unbalanced translocation resulting in del 13q and dup 15q
Split hand foot malformation with whorl-like pigmentary pattern: Phenotypic expression of somatic mosaicism for the p63 mutation
First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies