Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8
V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity
DNA sequence analysis of GJB2 , encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls
Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation
Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome
Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell–cell interactions, inflammatory response, and blood pressure regulation
A novel G106D alteration of the SDHD gene in a pedigree with familial paraganglioma
DLL3 as a candidate gene for vertebral malformations
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith–Magenis syndrome
Antenatal screening tests: Knowledge and practice patterns of obstetricians in Utah
No association between periconceptional multivitamin supplementation and risk of multiple congenital abnormalities: A population-based case-control study
Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: A possible “new” autosomal recessive syndrome?
FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions
Daughter and her mildly affected father with Keipert syndrome
Trigonocephaly in Muenke syndrome
Further phenotypic and genetic variation in ADULT syndrome
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome
Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex
Tracking rare incidence syndromes (TRIS) project