Genetic counselling
Genetic counselling is an educational process that aims to inform and advise patients and relatives at risk of a genetic condition about the nature of the disorder, the probability of developing it and the risk of passing it on to future generations. Individuals can then make informed decisions about available testing, health management, treatment, and family planning options.
Latest Research and Reviews
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Research
| Open Access
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
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KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI
Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome
A call for training programmes in cardiovascular genomics
Paternal sperm DNA mosaicism and recurrence risk of autism in families
Expanded non-invasive prenatal diagnostics