Genetics of individual differences in bitter taste perception
Glyc-O-genetics of Walker–Warburg syndrome
The ZIC gene family in development and disease
Thrombosis in autoimmune disease
Inherited microdeletions that give rise to Beckwith–Wiedemann syndrome
Juvenile myoclonic epilepsy, calcium and the EF hand of death
A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients
Identification of germline BRCA1 and BRCA2 genetic alterations in Greek breast cancer moderate-risk and low-risk individuals – correlation with clinicopathological data
Elastic fiber abnormalities in hypermobility type Ehlers–Danlos syndrome patients with tenascin-X mutations
Myocilin gene implicated in primary congenital glaucoma
A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH
The I1307K APC mutation in a high-risk clinic setting
Novel mutations in the calpain 3 gene in Germany
Association of COL1A2, COL2A1 and COL9A1 and primary osteoarthritis in a founder population
A search for the gene(s) predisposing to idiopathic clubfoot
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity
Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family