Genetics in Medicine

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

Publisher
NPG
Website
http://www.nature.com/gim/

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Genetics

Scientists develop breath test for methylmalonic acidemia

Researchers at the National Institutes of Health have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation. Researchers ...

Genetics

Cholesterol accumulation contributes to genetic movement disorder

A research team at the Greenwood Genetic Center (GGC) has identified the mechanism that causes movement disorders in patients with mutations in the NUS1 gene. Using both cellular and model organism studies, cholesterol accumulation ...

Genetics

Hidden genetic defects contain real risks for serious diseases

For the first time researchers from Hebrew University of Jerusalem, Radboudumc, Maastricht UMC+ and international colleagues have gained insight into the "hidden genetic defects" of the general European population. This is ...

Diseases, Conditions, Syndromes

Study underscores value of Down Syndrome Clinic to You program

A new software program effectively brings the expertise of Massachusetts General Hospital (MGH) specialists to many more patients with Down syndrome (DS), according to a study published today in Genetics in Medicine. Down ...

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