Genetics in Medicine

Genetics in Medicine is the official journal of the American College of Medical Genetics and Genomics.

Publisher
NPG

Some content from Wikipedia, licensed under CC BY-SA

Genetics

Discovered a cause of mental retardation and autism

The term intellectual disability covers a large number of clinical entities, some with known cause and others of uncertain origin. For example Down syndrome is due to an extra copy of chromosome 21 and Rett syndrome is in ...

Genetics

Whole genome sequencing for prenatal diagnosis

The Department of Obstetrics and Gynaecology of the Faculty of Medicine at The Chinese University of Hong Kong (CUHK) has successfully introduced a new genome sequencing technique for prenatal invasive genetic diagnosis. ...

Genetics

Biochemists confirm existence of theoretical genetic disorder

Thanks to the sequencing of the human genome, scientists can now discover potential disorders for which there are no known patients. One such disorder is MPS III-E, originally also called Dierks's disorder after its discoverer. ...

Genetics

Molecular cause for severe multi-organ syndrome

Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare multi-organ condition that causes early-onset retinal degeneration, ...

page 1 from 8