Search filters

List of works by Gunter Scharer

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

scientific article

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns

scientific article

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

scientific article

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

scientific article published on 18 March 2015

Neonatal liver failure: a genetic and metabolic perspective.

scientific article published on April 2010

Prediction of long-term outcome in glycine encephalopathy: a clinical survey.

scientific article published on 15 October 2011

Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region

scientific article published on 01 October 2011

Paulina is supported by:

About Paulina

Help