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Nature Reviews. Disease Primers|June 19, 2025
Bacterial vaginosisCatriona S Bradshaw, Erica L Plummer, Christina A Muzny, et al.
Acta Cardiologica|October 5, 2019
Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in <i>RBM20</i>Tomas Robyns, Rik Willems, Johan Van Cleemput, et al.
JIMD Reports|July 30, 2015
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null MutationBeyhan Tuysuz, Davut Pehlivan, Ahmet Özkök, et al.
Journal of Chemical Information and Modeling|November 24, 2011
ThermoData Engine (TDE) software implementation of the dynamic data evaluation concept. 7. Ternary mixturesVladimir Diky, Robert D Chirico, Chris D Muzny, et al.
Journal of Chemical Information and Modeling|December 21, 2010
ThermoData Engine (TDE): software implementation of the dynamic data evaluation concept. 5. Experiment planning and product designVladimir Diky, Robert D Chirico, Andrei F Kazakov, et al.
Genome Biology|July 27, 2011
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densitiesMatthew N Bainbridge, Min Wang, Yuanqing Wu, et al.
European Journal of Human Genetics : EJHG|July 3, 2014
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican populationClaudia Gonzaga-Jauregui, Candace N Gamble, Bo Yuan, et al.
Science Advances|September 8, 2016
Loss-of-function variants influence the human serum metabolomeBing Yu, Alexander H Li, Ginger A Metcalf, et al.
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