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Author/Creator Defesche, Joep

1. Adaptation of ACMG/AMP Guidelines for Standardized Variant Interpretation in Familial Hypercholesterolemia. (June 2018)

Authors:
Iacocca, Michael A.; Chora, Joana; Carrie, Alain; Leigh, Sarah E.; Tichy, Lukas; DiStefano, Marina T.; Defesche, Joep; Kurtz, C.L.; Sijbrands, Eric J.; Freiberger, Tomas; Hegele, Robert A.; Knowles, Joshua W.; Bourbon, Mafalda
Journal:
Atherosclerosis
Issue:
Volume 32(2018)
Page Start:
51
Record Type:
Journal Article
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3. Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody. (December 2015)

Authors:
Hopkins, Paul N.; Defesche, Joep; Fouchier, Sigrid W.; Bruckert, Eric; Luc, Gérald; Cariou, Bertrand; Sjouke, Barbara; Leren, Trond P.; Harada-Shiba, Mariko; Mabuchi, Hiroshi; Rabès, Jean-Pierre; Carrié, Alain; van Heyningen, Charles; Carreau, Valérie; Farnier, Michel; Teoh, Yee P.; Bourbon, Mafa...
Journal:
Circulation
Issue:
Volume 8:Number 6(2015)
Page Start:
Record Type:
Journal Article
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4. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. (29th August 2020)

Authors:
Watts, Gerald F; Gidding, Samuel; Wierzbicki, Anthony S; Toth, Peter P; Alonso, Rodrigo; Brown, W Virgil; Bruckert, Eric; Defesche, Joep; Lin, Khoo Kah; Livingston, Michael; Mata, Pedro; Parhofer, Klaus G; Raal, Frederick J; Santos, Raul D; Sijbrands, Eric JG; Simpson, William G; Sullivan, David ...
Journal:
European journal of preventive cardiology
Issue:
Volume 22:Number 7(2015)
Page Start:
849
Record Type:
Journal Article
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5. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. (July 2015)

Authors:
Watts, Gerald F; Gidding, Samuel; Wierzbicki, Anthony S; Toth, Peter P; Alonso, Rodrigo; Brown, W Virgil; Bruckert, Eric; Defesche, Joep; Lin, Khoo Kah; Livingston, Michael; Mata, Pedro; Parhofer, Klaus G; Raal, Frederick J; Santos, Raul D; Sijbrands, Eric JG; Simpson, William G; Sullivan, David ...
Journal:
European journal of preventive cardiology
Issue:
Volume 22:Number 7(2015)
Page Start:
849
Record Type:
Journal Article
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6. Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries. (6th January 2020)

Authors:
Futema, Marta; Shah, Sonia; Cooper, Jackie A; Li, KaWah; Whittall, Ros A; Sharifi, Mahtab; Goldberg, Olivia; Drogari, Euridiki; Mollaki, Vasiliki; Wiegman, Albert; Defesche, Joep; D'Agostino, Maria N; D'Angelo, Antonietta; Rubba, Paolo; Fortunato, Giuliana; Waluś-Miarka, Małgorzata; Hegele, Rober...
Journal:
Clinical chemistry
Issue:
Volume 61:Number 1(2015)
Page Start:
231
Record Type:
Journal Article
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7. The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. Issue 22 (1st December 2015)

Authors:
Gidding, Samuel S.; Ann Champagne, Mary; de Ferranti, Sarah D.; Defesche, Joep; Ito, Matthew K.; Knowles, Joshua W.; McCrindle, Brian; Raal, Frederick; Rader, Daniel; Santos, Raul D.; Lopes-Virella, Maria; Watts, Gerald F.; Wierzbicki, Anthony S.
Journal:
Circulation
Issue:
Volume 132:Issue 22(2015)
Page Start:
Record Type:
Journal Article
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