共 44 条
[21]
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
[J].
Lindsay, Mark E.
;
Schepers, Dorien
;
Bolar, Nikhita Ajit
;
Doyle, Jefferson J.
;
Gallo, Elena
;
Fert-Bober, Justyna
;
Kempers, Marlies J. E.
;
Fishman, Elliot K.
;
Chen, Yichun
;
Myers, Loretha
;
Bjeda, Djahita
;
Oswald, Gretchen
;
Elias, Abdallah F.
;
Levy, Howard P.
;
Anderlid, Britt-Marie
;
Yang, Margaret H.
;
Bongers, Ernie M. H. F.
;
Timmermans, Janneke
;
Braverman, Alan C.
;
Canham, Natalie
;
Mortier, Geert R.
;
Brunner, Han G.
;
Byers, Peter H.
;
Van Eyk, Jennifer
;
Van Laer, Lut
;
Dietz, Harry C.
;
Loeys, Bart L.
.
NATURE GENETICS,
2012, 44 (08)
:922-+

Lindsay, Mark E.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Pediat, Helen B Taussig Childrens Heart Ctr, Baltimore, MD 21205 USA
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

论文数: 引用数:
h-index:
机构:

Bolar, Nikhita Ajit
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium
Univ Antwerp Hosp, Antwerp, Belgium Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Doyle, Jefferson J.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Gallo, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Fert-Bober, Justyna
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Dept Med, Div Cardiol, Bayview Prote Ctr, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Kempers, Marlies J. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Inst Genet & Metab Disorders, Med Ctr, NL-6525 ED Nijmegen, Netherlands Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Fishman, Elliot K.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Sch Med, Russell H Morgan Dept Radiol & Radiol Sci, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Chen, Yichun
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Myers, Loretha
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Bjeda, Djahita
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Oswald, Gretchen
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Elias, Abdallah F.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Levy, Howard P.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Anderlid, Britt-Marie
论文数: 0 引用数: 0
h-index: 0
机构:
Karolinska Inst, Dept Clin Genet, Karolinska Univ Hosp, Stockholm, Sweden Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Yang, Margaret H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Dept Pathol, Seattle, WA 98195 USA
Univ Washington, Sch Med, Dept Genet, Seattle, WA USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Bongers, Ernie M. H. F.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Inst Genet & Metab Disorders, Med Ctr, NL-6525 ED Nijmegen, Netherlands Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Timmermans, Janneke
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Cardiol, Med Ctr, NL-6525 ED Nijmegen, Netherlands Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Braverman, Alan C.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Canham, Natalie
论文数: 0 引用数: 0
h-index: 0
机构:
Northwick Pk Hosp & Clin Res Ctr, Dept Clin Genet, NW Thames Reg Genet Serv, Harrow HA1 3UJ, Middx, England Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Mortier, Geert R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium
Univ Antwerp Hosp, Antwerp, Belgium Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Brunner, Han G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Inst Genet & Metab Disorders, Med Ctr, NL-6525 ED Nijmegen, Netherlands Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Byers, Peter H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Dept Pathol, Seattle, WA 98195 USA
Univ Washington, Sch Med, Dept Genet, Seattle, WA USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Van Eyk, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Dept Med, Div Cardiol, Bayview Prote Ctr, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Van Laer, Lut
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium
Univ Antwerp Hosp, Antwerp, Belgium Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Dietz, Harry C.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Pediat, Helen B Taussig Childrens Heart Ctr, Baltimore, MD 21205 USA
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium

Loeys, Bart L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium
Univ Antwerp Hosp, Antwerp, Belgium
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands
Radboud Univ Nijmegen, Inst Genet & Metab Disorders, Med Ctr, NL-6525 ED Nijmegen, Netherlands
Univ Ghent, Dept Pediat & Genet, B-9000 Ghent, Belgium Univ Antwerp, Fac Med & Hlth Sci, Ctr Med Genet, B-2020 Antwerp, Belgium
[22]
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
[J].
MacArthur, Daniel G.
;
Balasubramanian, Suganthi
;
Frankish, Adam
;
Huang, Ni
;
Morris, James
;
Walter, Klaudia
;
Jostins, Luke
;
Habegger, Lukas
;
Pickrell, Joseph K.
;
Montgomery, Stephen B.
;
Albers, Cornelis A.
;
Zhang, Zhengdong D.
;
Conrad, Donald F.
;
Lunter, Gerton
;
Zheng, Hancheng
;
Ayub, Qasim
;
DePristo, Mark A.
;
Banks, Eric
;
Hu, Min
;
Handsaker, Robert E.
;
Rosenfeld, Jeffrey A.
;
Fromer, Menachem
;
Jin, Mike
;
Mu, Xinmeng Jasmine
;
Khurana, Ekta
;
Ye, Kai
;
Kay, Mike
;
Saunders, Gary Ian
;
Suner, Marie-Marthe
;
Hunt, Toby
;
Barnes, If H. A.
;
Amid, Clara
;
Carvalho-Silva, Denise R.
;
Bignell, Alexandra H.
;
Snow, Catherine
;
Yngvadottir, Bryndis
;
Bumpstead, Suzannah
;
Cooper, David N.
;
Xue, Yali
;
Romero, Irene Gallego
;
Wang, Jun
;
Li, Yingrui
;
Gibbs, Richard A.
;
McCarroll, Steven A.
;
Dermitzakis, Emmanouil T.
;
Pritchard, Jonathan K.
;
Barrett, Jeffrey C.
;
Harrow, Jennifer
;
Hurles, Matthew E.
;
Gerstein, Mark B.
.
SCIENCE,
2012, 335 (6070)
:823-828

MacArthur, Daniel G.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England
Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Balasubramanian, Suganthi
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA
Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Frankish, Adam
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Huang, Ni
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Morris, James
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Walter, Klaudia
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Jostins, Luke
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Habegger, Lukas
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA
Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Pickrell, Joseph K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Montgomery, Stephen B.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Pathol, Stanford, CA 94305 USA
Stanford Univ, Dept Genet, Stanford, CA 94305 USA
Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva 4, Switzerland Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Albers, Cornelis A.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England
Univ Cambridge, Dept Haematol, Cambridge CB2 0PT, England
NHS Blood & Transplant, Cambridge CB2 0PT, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Zhang, Zhengdong D.
论文数: 0 引用数: 0
h-index: 0
机构:
Albert Einstein Coll Med, Dept Genet, Bronx, NY 10461 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Conrad, Donald F.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Lunter, Gerton
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Zheng, Hancheng
论文数: 0 引用数: 0
h-index: 0
机构:
BGI Shenzhen, Shenzhen 518083, Peoples R China Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Ayub, Qasim
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

DePristo, Mark A.
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Banks, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Hu, Min
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Handsaker, Robert E.
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA
Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Rosenfeld, Jeffrey A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med & Dent New Jersey, IST High Performance & Res Comp, Newark, NJ 07103 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Fromer, Menachem
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Jin, Mike
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Mu, Xinmeng Jasmine
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA
Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Khurana, Ekta
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA
Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Ye, Kai
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Mol Epidemiol Sect, NL-2300 RC Leiden, Netherlands Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Kay, Mike
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Saunders, Gary Ian
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Suner, Marie-Marthe
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Hunt, Toby
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Barnes, If H. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

论文数: 引用数:
h-index:
机构:

Carvalho-Silva, Denise R.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Bignell, Alexandra H.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Snow, Catherine
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Yngvadottir, Bryndis
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Bumpstead, Suzannah
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Cooper, David N.
论文数: 0 引用数: 0
h-index: 0
机构:
Cardiff Univ, Sch Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Xue, Yali
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Romero, Irene Gallego
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Wang, Jun
论文数: 0 引用数: 0
h-index: 0
机构:
BGI Shenzhen, Shenzhen 518083, Peoples R China Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Li, Yingrui
论文数: 0 引用数: 0
h-index: 0
机构:
BGI Shenzhen, Shenzhen 518083, Peoples R China Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Gibbs, Richard A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

McCarroll, Steven A.
论文数: 0 引用数: 0
h-index: 0
机构:
Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA
Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Dermitzakis, Emmanouil T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva 4, Switzerland Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Pritchard, Jonathan K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
Univ Chicago, Howard Hughes Med Inst, Chicago, IL 60637 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Barrett, Jeffrey C.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Harrow, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Hurles, Matthew E.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

Gerstein, Mark B.
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Program Computat Biol & Bioinformat, New Haven, CT 06520 USA
Yale Univ, Dept Mol Biophys & Biochem, New Haven, CT 06520 USA
Yale Univ, Dept Comp Sci, New Haven, CT 06520 USA Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England
[23]
Action and the Actionability in Exome Variation
[J].
MacRae, Calum A.
.
CIRCULATION-CARDIOVASCULAR GENETICS,
2012, 5 (06)
:597-598

MacRae, Calum A.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA Brigham & Womens Hosp, Boston, MA 02115 USA
[24]
Closer Look at Genetic Testing in Long-QT Syndrome Will DNA Diagnostics Ever Be Enough?
[J].
MacRae, Calum A.
.
CIRCULATION,
2009, 120 (18)
:1745-1748

MacRae, Calum A.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Div Cardiovasc, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA Brigham & Womens Hosp, Div Cardiovasc, Boston, MA 02115 USA
[25]
R222Q SCN5A Mutation Is Associated With Reversible Ventricular Ectopy and Dilated Cardiomyopathy
[J].
Mann, Stefan A.
;
Castro, Maria L.
;
Ohanian, Monique
;
Guo, Guanglan
;
Zodgekar, Poonam
;
Sheu, Angela
;
Stockhammer, Kathryn
;
Thompson, Tina
;
Playford, David
;
Subbiah, Rajesh
;
Kuchar, Dennis
;
Aggarwal, Anu
;
Vandenberg, Jamie I.
;
Fatkin, Diane
.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY,
2012, 60 (16)
:1566-1573

Mann, Stefan A.
论文数: 0 引用数: 0
h-index: 0
机构:
Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Castro, Maria L.
论文数: 0 引用数: 0
h-index: 0
机构:
Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Ohanian, Monique
论文数: 0 引用数: 0
h-index: 0
机构:
Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Guo, Guanglan
论文数: 0 引用数: 0
h-index: 0
机构:
Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Zodgekar, Poonam
论文数: 0 引用数: 0
h-index: 0
机构:
Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Sheu, Angela
论文数: 0 引用数: 0
h-index: 0
机构:
Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Stockhammer, Kathryn
论文数: 0 引用数: 0
h-index: 0
机构:
Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Thompson, Tina
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Melbourne Hosp, Clin Genet Serv, Parkville, Vic 3050, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Playford, David
论文数: 0 引用数: 0
h-index: 0
机构:
Galliers Private Hosp, Armadale Hlth Serv, Armadale, WA, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Subbiah, Rajesh
论文数: 0 引用数: 0
h-index: 0
机构:
St Vincents Hosp, Dept Cardiol, Darlinghurst, NSW 2010, Australia
Univ New S Wales, Fac Med, Kensington, NSW 2033, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Kuchar, Dennis
论文数: 0 引用数: 0
h-index: 0
机构:
St Vincents Hosp, Dept Cardiol, Darlinghurst, NSW 2010, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Aggarwal, Anu
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Melbourne Hosp, Clin Genet Serv, Parkville, Vic 3050, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Vandenberg, Jamie I.
论文数: 0 引用数: 0
h-index: 0
机构:
Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia
Univ New S Wales, Fac Med, Kensington, NSW 2033, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia

Fatkin, Diane
论文数: 0 引用数: 0
h-index: 0
机构:
Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia
St Vincents Hosp, Dept Cardiol, Darlinghurst, NSW 2010, Australia
Univ New S Wales, Fac Med, Kensington, NSW 2033, Australia Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW 2010, Australia
[26]
Genetics of Hypertrophic Cardiomyopathy After 20 Years Clinical Perspectives
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Maron, Barry J.
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JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY,
2012, 60 (08)
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Maron, Barry J.
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h-index: 0
机构:
Minneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA Minneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA

Maron, Martin S.
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h-index: 0
机构:
Tufts Med Ctr, Hypertroph Cardiomyopathy Ctr, Boston, MA USA Minneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA

Semsarian, Christopher
论文数: 0 引用数: 0
h-index: 0
机构:
Agnes Ginges Ctr Mol Cardiol, Sydney, NSW, Australia
Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia
Centenary Inst, Sydney, NSW, Australia
Royal Prince Alfred Hosp, Dept Cardiol, Sydney, NSW, Australia Minneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA
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Prevention of Sudden Death for Patients With Cardiomyopathies Another Step Forward
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Maron, Barry J.
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JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY,
2012, 59 (05)
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Maron, Barry J.
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h-index: 0
机构:
Minneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA Minneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA

Semsarian, Christopher
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sydney, Sydney Med Sch, Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Camperdown, NSW, Australia
Royal Prince Alfred Hosp, Dept Cardiol, Camperdown, NSW 2050, Australia Minneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA
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Double or compound sarcomere mutations in hypertrophic cardiomyopathy: A potential link to sudden death in the absence of conventional risk factors
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Maron, Barry J.
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HEART RHYTHM,
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:57-63

Maron, Barry J.
论文数: 0 引用数: 0
h-index: 0
机构:
Minneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA Minneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA

Maron, Martin S.
论文数: 0 引用数: 0
h-index: 0
机构:
Tufts Med Ctr, Hypertroph Cardiomyopathy Ctr, Boston, MD USA Minneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA

Semsarian, Christopher
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Sydney, Agnes Ginges Ctr Mol Cardiol, Centenary Inst, Sydney Med Sch, Camperdown, NSW, Australia
Royal Prince Alfred Hosp, Dept Cardiol, Camperdown, NSW 2050, Australia Minneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA
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Circulating Transforming Growth Factor-β in Marfan Syndrome
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Matt, Peter
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Schoenhoff, Florian
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Habashi, Jennifer
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Holm, Tammy
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Loch, David
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Carlson, Olga D.
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Griswold, Benjamin F.
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Fu, Qin
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De Backer, Julie
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Loeys, Bart
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Matt, Peter
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h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21239 USA
Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD 21239 USA
Univ Hosp, Div Cardiac Surg, Basel, Switzerland Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Schoenhoff, Florian
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21239 USA
Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD 21239 USA
Univ Bern, Dept Cardiovasc Surg, CH-3012 Bern, Switzerland Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Habashi, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21239 USA
Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD 21239 USA Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Holm, Tammy
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21239 USA
Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD 21239 USA Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Van Erp, Christel
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21239 USA
Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD 21239 USA Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Loch, David
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21239 USA
Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD 21239 USA Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Carlson, Olga D.
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Clin Invest Lab, Bethesda, MD 20892 USA Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Griswold, Benjamin F.
论文数: 0 引用数: 0
h-index: 0
机构:
NIA, Clin Invest Lab, Bethesda, MD 20892 USA Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Fu, Qin
论文数: 0 引用数: 0
h-index: 0
机构: Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

De Backer, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Loeys, Bart
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h-index: 0
机构:
Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Huso, David L.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Mol & Comparat Pathobiol, Baltimore, MD 21239 USA Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

McDonnell, Nazli B.
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h-index: 0
机构:
NIA, Clin Res Branch, Bethesda, MD 20892 USA Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Van Eyk, Jennifer E.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA

Dietz, Harry C.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21239 USA
Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD 21239 USA Johns Hopkins Univ, Johns Hopkins Prote Ctr, Baltimore, MD 21239 USA
[30]
Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death
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Nyegaard, Mette
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Overgaard, Michael T.
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Sondergaard, Mads T.
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Vranas, Marta
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Behr, Elijah R.
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Hildebrandt, Lasse L.
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Lund, Jacob
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Hedley, Paula L.
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Camm, A. John
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Wettrell, Goeran
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Fosdal, Inger
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Christiansen, Michael
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Borglum, Anders D.
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AMERICAN JOURNAL OF HUMAN GENETICS,
2012, 91 (04)
:703-712

Nyegaard, Mette
论文数: 0 引用数: 0
h-index: 0
机构:
Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Overgaard, Michael T.
论文数: 0 引用数: 0
h-index: 0
机构:
Aalborg Univ, Dept Biotechnol Chem & Environm Engn, DK-9000 Aalborg, Denmark Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Sondergaard, Mads T.
论文数: 0 引用数: 0
h-index: 0
机构:
Aalborg Univ, Dept Biotechnol Chem & Environm Engn, DK-9000 Aalborg, Denmark Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Vranas, Marta
论文数: 0 引用数: 0
h-index: 0
机构:
Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Behr, Elijah R.
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, Div Cardiac & Vasc Sci, London SW17 0RE, England Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Hildebrandt, Lasse L.
论文数: 0 引用数: 0
h-index: 0
机构:
Aalborg Univ, Dept Biotechnol Chem & Environm Engn, DK-9000 Aalborg, Denmark Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Lund, Jacob
论文数: 0 引用数: 0
h-index: 0
机构:
Aalborg Univ, Dept Biotechnol Chem & Environm Engn, DK-9000 Aalborg, Denmark Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Hedley, Paula L.
论文数: 0 引用数: 0
h-index: 0
机构:
Statens Serum Inst, Dept Clin Biochem Immunol & Genet, DK-2300 Copenhagen, Denmark
Univ Stellenbosch, Fac Hlth Sci, Dept Biomed Sci, ZA-7505 Tygerberg, South Africa Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Camm, A. John
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, Div Cardiac & Vasc Sci, London SW17 0RE, England Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Wettrell, Goeran
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lund Hosp, Div Paediat Cardiol, SE-22185 Lund, Sweden Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Fosdal, Inger
论文数: 0 引用数: 0
h-index: 0
机构:
Visby Hosp, Dept Paediat, SE-62184 Visby, Sweden Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Christiansen, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Statens Serum Inst, Dept Clin Biochem Immunol & Genet, DK-2300 Copenhagen, Denmark Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark

Borglum, Anders D.
论文数: 0 引用数: 0
h-index: 0
机构:
Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark Aarhus Univ, Dept Biomed, DK-8000 Aarhus, Denmark