Upper airway obstruction in neonates and infants with CHARGE syndrome
An association of Hutchinson–Gilford progeria and malignancy
Ataxia-telangiectasia: Mild neurological presentation despite null ATM mutation and severe cellular phenotype
Disclosures of Huntington disease risk within families: Patterns of decision-making and implications
The clinical utility of enhanced subtelomeric coverage in array CGH
Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map
Endochondral gigantism: A newly recognized skeletal dysplasia with pre- and postnatal overgrowth and endocrine abnormalities
Filamin A mutation is one cause of FG syndrome
Interstitial del(20)(q11.2q12)—Clinical and molecular cytogenetic characterization
A girl with deletion 9q22.1–q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH
Mosaic variegated aneuploidy without microcephaly: Implications for cytogenetic diagnosis
A de novo 1.1–1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: An autosomal recessive disorder similar to Temtamy syndrome
Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins
An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses
Genochondromatosis type II: Report of a new patient and further delineation of the phenotype
End-stage renal failure in Smith–Magenis syndrome
Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy
An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior
Omphalocele, bladder exstrophy, imperforate anus, spine defects complex, and bilateral cleft lip and palate in one product of a triplet pregnancy obtained by in vitro fertilization: A case report
TG15 T5 allele in clinically discordant monozygotic twins with cystic fibrosis
Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements
Clinical dividends from the molecular genetic diagnosis of craniosynostosis