Browsing by Author Carrie, Alain
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) | Type | Access Type |
| May-2018 | Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia – a ClinGen FH Expert Panel pilot study | Chora, Joana; A. Iacocca, Michael; Lisa Kurtz, C; Carrie, Alain; Tichy, Lukas; E. Leigh, Sarah; T. DiStefano, Marina; Defesche, Joep; J. Sijbrands, Eric; Freiberger, Tomas; A. Hegele, Robert; W. Knowles, Joshua; Bourbon, Mafalda | conferenceObject |  |
| Jun-2017 | Progress in ACMG/AMP-adapted guidelines for standardized variant curation in familial hypercholesterolemia | Iacocca, Michael A.; Chora, Joana; Rivera, E. Andy; DiStefano, Marina T.; Carrie, Alain; Sijbrands, Eric J.; Defesche, Joep; Freiberger, Tomas; Knowles, Joshua W.; Hegele, Robert A.; Bourbon, Mafalda | conferenceObject |  |