Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants

بواسطة Jiao Fu, Manassawee Korwutthikulrangsri, Leigh Ramos-Platt, Tyler M. Pierson, Xiao Hui Liao, Samuel Refetoff, Roy E. Weiss, Alexandra M. Dumitrescu
منشور في 2020

Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations

بواسطة Jiao Fu, Manassawee Korwutthikulrangsri, E. Nazli Gönç, Laura Sillers, Xiao Hui Liao, Ayfer Alikaşifoǧlu, Nurgün Kandemir, Maria Belen Menucci, Kenneth D. Burman, Roy E. Weiss, Alexandra M. Dumitrescu
منشور في 2020