Hung-Chun Yu

Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish

Nayeli G. Reyes-Nava

• Apr 1, 2020 • 1 min read

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid

Emmanuel Scalais

• Jun 1, 2017 • 1 min read

Intellectual Disability

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

Hung-Chun Yu

• May 1, 2016 • 1 min read

Alpers Syndrome

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

Curtis R. Coughlin

• Aug 1, 2015 • 1 min read

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

Hung-Chun Yu

• Sep 1, 2013 • 1 min read