Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia

Por Liu, Ying, Sidhu, Alpa, Bean, Lora H., Conway, Robert L., Fridovich-Keil, Judith
Publicado no Clin Chim Acta (2015)

Detection limit of intragenic deletions with targeted array comparative genomic hybridization

Por Askree, S Hussain, Chin, Ephrem LH, Bean, Lora H, Coffee, Bradford, Tanner, Alice, Hegde, Madhuri
Publicado no BMC Genet (2013)