Resultados da busca - Robert A. Hegele

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

Connect to this object online.

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

Connect to this object online.

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

Connect to this object online.

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

Connect to this object online.

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

Connect to this object online.

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

Connect to this object online.

Targeted next generation sequencing as a tool for precision medicine por 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

Connect to this object online.

Abetalipoproteinemia Due to a Novel Splicing Variant in in 3 Siblings por 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

Connect to this object online.