New study identifies motor delay and hypotonia as key predictors of genetic diagnoses, offering a practical tool to guide ...

A clinical research team from the LKS Faculty of Medicine, the University of Hong Kong (HKUMed), and international genetic researchers led a global research study using multi-omics analysis and ...

Genetic epidemiological data suggests that ... dental abnormalities, hypotonia, mild dysmorphism, short stature, sleep apnea 15q11–q13 4.6–5.6 Mb Prader–Willi syndrome (paternal deletion ...

A clinical research team from the LKS Faculty of Medicine, the University of Hong Kong (HKUMed), and international genetic researchers led a global research study using multi-omics analysis and ...

At the age of five months, the children presented with repeated vomiting and developed strabismus, progressive muscular hypotonia, myoclonic epilepsy and psychomotor regression. A cranial CT-scan ...

Autism is highly heritable but current genetic risk factors do not explain a large proportion of this heritability. Recent technological advances have enabled genome-wide single nucleotide ...