Bilaketaren emaitzak - Robert A. Hegele

Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial c.8344A>G Variant nork Uththara Perera, Brooke A. Kennedy BSc, Robert A. Hegele MD, FRCPC, FACP

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Severe Combined Dyslipidemia With a Complex Genetic Basis nork Ryan Le MD, Minan Abbas MB ChB, FRCPC, Adam D. McIntyre BSc, Robert A. Hegele MD, FRCPC, FACP

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias nork Jacqueline S. Dron, Jian Wang, Adam D. McIntyre, Michael A. Iacocca, John F. Robinson, Matthew R. Ban, Henian Cao, Robert A. Hegele

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A De Novo Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome nork Linda R. Wang MD, Aleksandar Radonjic BSc, Allison A. Dilliott BSc, Adam D. McIntyre BSc, Robert A. Hegele MD, FRCPC, FACP

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Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant nork Shengjie Ying, Tracy Heung, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Yue Yin, Christina Blagojevic, Zhaolei Zhang, Robert A. Hegele, Ryan K. C. Yuen, Anne S. Bassett

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Polygenic risk for triglyceride levels in the presence of a high impact rare variant nork Shengjie Ying, Tracy Heung, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Yue Yin, Christina Blagojevic, Zhaolei Zhang, Robert A. Hegele, Ryan K. C. Yuen, Anne S. Bassett

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Targeted next generation sequencing as a tool for precision medicine nork Markus Gulilat, Tyler Lamb, Wendy A. Teft, Jian Wang, Jacqueline S. Dron, John F. Robinson, Rommel G. Tirona, Robert A. Hegele, Richard B. Kim, Ute I. Schwarz

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Abetalipoproteinemia Due to a Novel Splicing Variant in in 3 Siblings nork Caitlyn Vlasschaert MD, MSc, Adam D. McIntyre BSc, Lauren A. Thomson BSc, Brooke A. Kennedy BSc, Suzanne Ratko RD, Chitra Prasad MD, FRCPC, FCCMG, Robert A. Hegele MD, FRCPC, FACP

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