Topics › Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics
Connective tissue disorders research Sign in to save
Papers per year
Papers 69
Open in paper search →-
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lisa M. van den Bersselaar, Judith M. A. Verhagen, Jos A. Bekkers, Marlies J. E. Kempers, Arjan C. Houweling, Marieke J.H. Baars, +13 more
0citations -
6513 Identification of pathogenic ACAN variants in healthy children with normal height and advanced bone age2024 Journal of the Endocrine Society article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
M Hernandez, Nancy Unanue, Hermine van Duyvenvoorde, Verónica Mericq G
0citations -
Practical Guidance for Clinicians to Optimise Orthopaedic Outcomes in Achondroplasia: International Achondroplasia Forum Guiding Principles2025 SSRN Electronic Journal preprint Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Philip Kunkel, Carmen L. A. Vleggeert-Lankamp, Simone Riganti, Antonio Leiva Gea, Silvio Boero, Svein O. Fredwall, +5 more
0citations -
Abnormal aortic motion corresponds with abnormal wall shear stress in Marfan patients: a combined 4D bSSFP and 4D flow CMR study2026 Journal of Cardiovascular Magnetic Resonance article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Daan Bosshardt, Renske Merton, Eric Mathew Schrauben, Roland van Kimmenade, Aart Nederveen, Moniek G.P.J. Cox, +4 more
0citations -
Type B dissection in marfan syndrome is associated with prior elective aortic root surgery and lack of betablocker treatment in 6700+ years of follow-up: a study by european reference network VASCERN2025 European Heart Journal article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research
Daan Bosshardt, G Jondeau, G Teixido-Tura, Roland R.J. van Kimmenade, J De Backer, O Milleron, +9 more
0citations -
Practical guidance for clinicians to optimise orthopaedic outcomes in achondroplasia: International Achondroplasia Forum guiding principles2026 Bone article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Philip Kunkel, Simone Riganti, Antonio Leiva Gea, Silvio Boero, Svein O. Fredwall, Klaus L. Mohnike, +4 more
0citations -
Age at elective aortic root surgery in marfan syndrome: does medication matter? a study by the European reference network VASCERN2025 European Heart Journal article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research
Daan Bosshardt, G Jondeau, G Teixido-Tura, Roland R.J. van Kimmenade, J De Backer, O Milleron, +9 more
0citations -
Aortic displacement and hemodynamics are abnormal in patients with Marfan syndrome: A combined four-dimensional balanced steady-state free precession and four-dimensional flow cardiac magnetic resonance study2026 Journal of Cardiovascular Magnetic Resonance article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Daan Bosshardt, Renske Merton, Aart J. Nederveen, Roland R.J. van Kimmenade, Moniek G.P.J. Cox, A H J A Scholte, +4 more
0citations -
Genetic Patterns in Familial Thoracic Aortic Aneurysm Disease2026 Genes article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lisa C. Harling, Mohammad A. Zafar, Mah I Kan Changez, Dimitra Papanikolaou, Nafiye Busra Celik, Nimrat Grewal, +1 more
0citations
Most active Aachen authors
-
Arthur J.H.A. Scholte 7,697 citations overall14 papers
-
Yvonne Hilhorst‐Hofstee 6,532 citations overall9 papers
-
Natasha M. Appelman‐Dijkstra 5,738 citations overall7 papers
-
Andrea Maier 341 citations overall4 papers
-
Alexander Gombert 1,560 citations overall3 papers
-
Christian Uhl 1,081 citations overall3 papers
-
Nimrat Grewal 718 citations overall3 papers
-
Ana Luisa Priego Zurita 43 citations overall3 papers
-
Cathryn Bassett 14 citations overall3 papers
-
Bernhard Hruschka 8 citations overall3 papers
-
Andrea Britta Maier 32,986 citations overall2 papers
-
Marco Roos 23,445 citations overall2 papers
-
Jan Maarten Wit 19,263 citations overall2 papers
-
Robert J.M. Klautz 15,103 citations overall2 papers
-
Robert E. Poelmann 14,194 citations overall2 papers