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Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.
Published in:
European Heart Journal, 2011, v. 32, n. 9, p. 1161, doi. 10.1093/eurheartj/ehr092
By:
- Christiaans, Imke;
- Birnie, Erwin;
- Bonsel, Gouke J.;
- Mannens, Marcel M.A.M.;
- Michels, Michelle;
- Majoor-Krakauer, Daniëlle;
- Dooijes, Dennis;
- van Tintelen, J. Peter;
- van den Berg, Maarten P.;
- Volders, Paul G.A.;
- Arens, Yvonne H.;
- van den Wijngaard, Arthur;
- Atsma, Douwe E.;
- Helderman-van den Enden, Apollonia T.J.M.;
- Houweling, Arjan C.;
- de Boer, Karin;
- van der Smagt, Jasper J.;
- Hauer, Richard N.W.;
- Marcelis, Carlo L.M.;
- Timmermans, Janneke
Publication type:
Article
Maternal risk factors for the VACTERL association: A EUROCAT case–control study.
Published in:
Birth Defects Research, 2020, v. 112, n. 9, p. 688, doi. 10.1002/bdr2.1686
By:
- Putte, Romy;
- Rooij, Iris A.L.M.;
- Haanappel, Cynthia P.;
- Marcelis, Carlo L.M.;
- Brunner, Han G.;
- Addor, Marie‐Claude;
- Cavero‐Carbonell, Clara;
- Dias, Carlos M.;
- Draper, Elizabeth S.;
- Etxebarriarteun, Larraitz;
- Gatt, Miriam;
- Khoshnood, Babak;
- Kinsner‐Ovaskainen, Agnieszka;
- Klungsoyr, Kari;
- Kurinczuk, Jenny J.;
- Latos‐Bielenska, Anna;
- Luyt, Karen;
- O'Mahony, Mary T.;
- Miller, Nicola;
- Mullaney, Carmel
Publication type:
Article
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 21, p. 4175, doi. 10.1093/hmg/ddr344
By:
- De Vos, Winnok H.;
- Houben, Frederik;
- Kamps, Miriam;
- Malhas, Ashraf;
- Verheyen, Fons;
- Cox, Juliën;
- Manders, Erik M.M.;
- Verstraeten, Valerie L.R.M.;
- van Steensel, Maurice A.M.;
- Marcelis, Carlo L.M.;
- van den Wijngaard, Arthur;
- Vaux, David J.;
- Ramaekers, Frans C.S.;
- Broers, Jos L.V.
Publication type:
Article
Constructing 'best interests': Genetic testing of children in families with hypertrophic cardiomyopathy.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1930, doi. 10.1002/ajmg.a.34107
By:
- Geelen, Els;
- Van Hoyweghen, Ine;
- Doevendans, Pieter A.;
- Marcelis, Carlo L.M.;
- Horstman, Klasien
Publication type:
Article
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Published in:
Human Mutation, 2008, v. 29, n. 9, p. 1125, doi. 10.1002/humu.20750
By:
- Marcelis, Carlo L.M.;
- Hol, Frans A.;
- Graham, Gail E.;
- Rieu, Paul N.M.A.;
- Kellermayer, Richard;
- Meijer, Rowdy P.P.;
- Lugtenberg, Dorien;
- Scheffer, Hans;
- van Bokhoven, Hans;
- Brunner, Han G.;
- de Brouwer, Arjan P.M.
Publication type:
Article
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 16, p. 2509, doi. 10.1093/hmg/ddl172
By:
- Verstraeten, Valerie L.R.M.;
- Broers, Jos L.V.;
- van Steensel, Maurice A.M.;
- Zinn-Justin, Sophie;
- Ramaekers, Frans C.S.;
- Steijlen, Peter M.;
- Kamps, Miriam;
- Kuijpers, Helma J.H.;
- Merckx, Diane;
- Smeets, Hubert J.M.;
- Hennekam, Raoul C.M.;
- Marcelis, Carlo L.M.;
- van den Wijngaard, Arthur
Publication type:
Article

Found: 6

Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.

Maternal risk factors for the VACTERL association: A EUROCAT case–control study.

Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.

Constructing 'best interests': Genetic testing of children in families with hypertrophic cardiomyopathy.

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.