Phenotype

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

Nayeli G. Reyes-Nava

• Apr 1, 2020 • 1 min read

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

Nicholas v. Stence

• May 1, 2019 • 1 min read

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

Clara D. M. Van Karnebeek

• Jun 1, 2016 • 1 min read

Acyl-CoA Dehydrogenase

Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency

Curtis R. Coughlin

• Dec 1, 2010 • 1 min read

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

Matthew G. Sampson

• Oct 1, 2010 • 1 min read

Amino Acid Substitution

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

Curtis R. Coughlin

• Jul 1, 2010 • 1 min read