Joep Defesche
AuthID: R-00G-SYD
1
TITLE: Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
AUTHORS: Katherine A Wilemon; Jasmine Patel; Carlos Aguilar Salinas; Catherine D Ahmed; Mutaz Alkhnifsawi; Wael Almahmeed; Rodrigo Alonso; Khalid Al Rasadi; Lina Badimon; Luz M Bernal; Martin P Bogsrud; Lynne T Braun; Liam Brunham; Alberico L Catapano; Kristyna Cillikova; Pablo Corral; Regina Cuevas; Joep C Defesche; Olivier S Descamps; Sarah de Ferranti; ...More
PUBLISHED: 2020, SOURCE: JAMA CARDIOLOGY, VOLUME: 5, ISSUE: 2
AUTHORS: Katherine A Wilemon; Jasmine Patel; Carlos Aguilar Salinas; Catherine D Ahmed; Mutaz Alkhnifsawi; Wael Almahmeed; Rodrigo Alonso; Khalid Al Rasadi; Lina Badimon; Luz M Bernal; Martin P Bogsrud; Lynne T Braun; Liam Brunham; Alberico L Catapano; Kristyna Cillikova; Pablo Corral; Regina Cuevas; Joep C Defesche; Olivier S Descamps; Sarah de Ferranti; ...More
PUBLISHED: 2020, SOURCE: JAMA CARDIOLOGY, VOLUME: 5, ISSUE: 2
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: ClinVar database of global familial hypercholesterolemia-associated DNA variants Full Text
AUTHORS: Michael A Iacocca; Joana R Chora; Alain Carrie; Tomas Freiberger; Sarah E Leigh; Joep C Defesche; Lisa L Kurtz; Marina T DiStefano; Raul D Santos; Steve E Humphries; Pedro Mata; Cinthia E Jannes; Amanda J Hooper; Katherine A Wilemon; Pascale Benlian; Robert O'Connor; John Garcia; Hannah Wand; Lukas Tichy; Eric J Sijbrands; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 11
AUTHORS: Michael A Iacocca; Joana R Chora; Alain Carrie; Tomas Freiberger; Sarah E Leigh; Joep C Defesche; Lisa L Kurtz; Marina T DiStefano; Raul D Santos; Steve E Humphries; Pedro Mata; Cinthia E Jannes; Amanda J Hooper; Katherine A Wilemon; Pascale Benlian; Robert O'Connor; John Garcia; Hannah Wand; Lukas Tichy; Eric J Sijbrands; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 11
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
AUTHORS: Paul N Hopkins; Joep Defesche; Sigrid W Fouchier; Eric Bruckert; Gerald Luc; Bertrand Cariou; Barbara Sjouke; Trond P Leren; Mariko Harada Shiba; Hiroshi Mabuchi; Jean Pierre Rabes; Alain Carrie; Charles van Heyningen; Valerie Carreau; Michel Farnier; Yee P Teoh; Mafalda Bourbon; Masa aki Kawashiri; Atsushi Nohara; Handrean Soran; ...More
PUBLISHED: 2015, SOURCE: CIRCULATION-CARDIOVASCULAR GENETICS, VOLUME: 8, ISSUE: 6
AUTHORS: Paul N Hopkins; Joep Defesche; Sigrid W Fouchier; Eric Bruckert; Gerald Luc; Bertrand Cariou; Barbara Sjouke; Trond P Leren; Mariko Harada Shiba; Hiroshi Mabuchi; Jean Pierre Rabes; Alain Carrie; Charles van Heyningen; Valerie Carreau; Michel Farnier; Yee P Teoh; Mafalda Bourbon; Masa aki Kawashiri; Atsushi Nohara; Handrean Soran; ...More
PUBLISHED: 2015, SOURCE: CIRCULATION-CARDIOVASCULAR GENETICS, VOLUME: 8, ISSUE: 6
INDEXED IN: WOS 
CrossRef
WOS CrossRef