Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidel...

ανά Kronquist, Kathryn E., Sherman, Stephanie L., Spector, Elaine B.
Έκδοση 2008

Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family

ανά Stabler, Sally P., Korson, Mark, Jethva, Reena, Allen, Robert H., Kraus, Jan P., Spector, Elaine B., Wagner, Conrad, Mudd, S. Harvey
Έκδοση 2013

Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype

ανά Bellus, Gary A., Spector, Elaine B., Speiser, Phyllis W., Weaver, Christine A., Garber, Anthony T., Bryke, Christine R., Israel, Jamie, Rosengren, Sally S., Webster, Melanie K., Donoghue, Daniel J., Francomano, Clair A.
Έκδοση 2000

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly

ανά Friederich, Marisa W., Erdogan, Alican J., Coughlin, Curtis R., Elos, Mihret T., Jiang, Hua, O’Rourke, Courtney P., Lovell, Mark A., Wartchow, Eric, Gowan, Katherine, Chatfield, Kathryn C., Chick, Wallace S., Spector, Elaine B., Van Hove, Johan L.K., Riemer, Jan
Τόπος έκδοσης Hum Mol Genet (2017)

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

ανά Swanson, Michael A., Coughlin, Curtis R., Scharer, Gunter H., Szerlong, Heather J., Bjoraker, Kendra J., Spector, Elaine B., Creadon‐Swindell, Geralyn, Mahieu, Vincent, Matthijs, Gert, Hennermann, Julia B., Applegarth, Derek A., Toone, Jennifer R., Tong, Suhong, Williams, Kristina, Van Hove, Johan L. K.
Τόπος έκδοσης Ann Neurol (2015)