Search

Author/Creator Hegele, Robert A

1. A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. Issue 5 (17th February 2015)

Authors:
Li, Lili; Hamel, Nancy; Baker, Kristi; McGuffin, Michael J; Couillard, Martin; Gologan, Adrian; Marcus, Victoria A; Chodirker, Bernard; Chudley, Albert; Stefanovici, Camelia; Durandy, Anne; Hegele, Robert A; Feng, Bing-Jian; Goldgar, David E; Zhu, Jun; De Rosa, Marina; Gruber, Stephen B; Wimmer, ...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 5(2015)
Page Start:
348
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Issue 10 (October 2016)

Authors:
Santos, Raul D; Gidding, Samuel S; Hegele, Robert A; Cuchel, Marina A; Barter, Philip J; Watts, Gerald F; Baum, Seth J; Catapano, Alberico L; Chapman, M John; Defesche, Joep C; Folco, Emanuela; Freiberger, Tomas; Genest, Jacques; Hovingh, G Kees; Harada-Shiba, Mariko; Humphries, Steve E; Jackson,...
Journal:
Lancet
Issue:
Volume 4:Issue 10(2016)
Page Start:
850
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Efficacy and safety of volanesorsen in patients with multifactorial chylomicronaemia (COMPASS): a multicentre, double-blind, randomised, placebo-controlled, phase 3 trial. Issue 5 (May 2021)

Authors:
Gouni-Berthold, Ioanna; Alexander, Veronica J; Yang, Qingqing; Hurh, Eunju; Steinhagen-Thiessen, Elisabeth; Moriarty, Patrick M; Hughes, Stephen G; Gaudet, Daniel; Hegele, Robert A; O'Dea, Louis St L; Stroes, Erik S G; Tsimikas, Sotirios; Witztum, Joseph L; Agarwal, Abhay; Ballantyne, Christie; B...
Journal:
Lancet
Issue:
Volume 9:Issue 5(2021)
Page Start:
264
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗