Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

by Kuntal Sen, Shagun Kaur, David W. Stockton, Mary Nyhuis, Jacquelyn Roberson
Published 2021-01-01

A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency.

by Darren N Saunders, Elizabeth A Tindall, Robert F Shearer, Jacquelyn Roberson, Amy Decker, Jean Amos Wilson, Vanessa M Hayes
Published 2012-01-01