Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Prenatal Diagnosis|April 3, 2012
Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosisAlecia S Willis, Ignatia van den Veyver, Christine M Eng
International Journal of Pediatric Endocrinology|August 24, 2011
Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutationMeenal S Mendiratta, Yaping Yang, Andrea E Balazs, et al.
Free Radical Biology & Medicine|December 25, 2002
Ethnic diversity in a critical gene responsible for glutathione synthesisAlecia S Willis, Michael L Freeman, Samantha R Summar, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndromeMatteo Vatta, Zhiyv Niu, James R Lupski, et al.
Molecular Genetics and Metabolism|July 27, 2010
An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitroTruc M Le, Alecia S Willis, Frederick E Barr, et al.
Molecular Genetics and Metabolism Reports|November 25, 2014
Lysinuric Protein Intolerance Presenting with Multiple FracturesJennifer E Posey, Lindsay C Burrage, Marcus J Miller, et al.
Pageof 1