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Showing 85 - 96 of 148 results
Publication

Quantification of rare allelic variants from pooled genomic DNA

Todd E Druley, Aaron Hamvas, Daniel J Wegner, F Sessions Cole, Francesco L M Vallania, Jacqueline A Bonds, Justin C Fay, Katherine E Varley, Olivia L Knowles, Robi D Mitra, Sarah W Robison, Scott W Doniger

Publication

Developmental and genetic regulation of human surfactant protein B in vivo.

Aaron Hamvas, Christopher S. Carlson, Daniel J. Wegner, F. Sessions Cole, Hillary B. Heins, Kate W. Bennet, Michelle A. Trusgnich, Ping An, Ping Yang, Susan H. Guttentag

Publication

Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency

Tami H Garmany, Aaron Hamvas, Daniel J Wegner, F Sessions Cole, Garland Land, Hillary B Heins, Howard Henderson, Jennifer A Wambach, Julie M Watkins-Torry, Kate Bennet, Lawrence M Nogee, Ola D Saugstad, Ping An

Publication

Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene

Amy D. McBee, Aaron Hamvas, Christopher S. Carlson, Daniel J. Wegner, F. Sessions Cole, Hillary B. Heins, Howard Henderson, Jennifer A. Wambach, Julie Watkins-Torry, Lawrence M. Nogee, Michelle A. Trusgnich, Ola D. Saugstad, Ping Yang

Publication

Comprehensive genetic variant discovery in the surfactant protein B gene.

Aaron Hamvas, Christopher S Carlson, Daniel J Wegner, Elaine R Mardis, F Sessions Cole, Kelly R Bergmann, Lucinda Fulton, Michelle A Trusgnich, Ping An, Richard K Wilson, Yumi Kasai

Publication

A major deletion in the surfactant protein-B gene causing lethal respiratory distress

Daniel J Wegner, Aaron Hamvas, Christopher S Carlson, F Sessions Cole, Göran Elmberger, Hillary B Heins, Lawrence M Nogee, Michael J MacCoss, Torbjörn Hertzberg

Publication

Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease

Ola D. Saugstad, Aaron Hamvas, Arild Rønnestad, Britt Nakstad, F. Sessions Cole, Finn Reinholt, Jeffrey A. Whitsett, Lawrence M. Nogee, Michael Dean, Per Arne Tølløfsrud, Susan E. Wert, Thor Willy Ruud Hansen

Publication

Genetic disorders of surfactant proteins.

Aaron Hamvas, F. Sessions Cole, Lawrence M. Nogee

Publication

Introduction