Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Marieke JH Baars"'
Autor:
Stijntje Hibender, Siyu Li, Alex V Postma, Myrthe E Hoogeland, Denise Klaver, Richard B Pouw, Hans W Niessen, Antoine HG Driessen, David R Koolbergen, Carlie JM de Vries, Marieke JH Baars, Arjan C Houweling, Paul A Krijnen, Vivian de Waard
Publikováno v:
Vascular Biology, Vol 4, Iss 1, Pp 40-49 (2022)
Marfan syndrome (MFS) is a connective tissue disorder causing aortic aneurysm formation. Currently, only prophylactic aortic surgery and blood pressure-lowering drugs are available to reduce the risk of aortic rupture. Upon whole genome sequencing of
Externí odkaz:
https://doaj.org/article/d46834c056ed40f195ae750f5a23a4ec
Autor:
Mark Nellist, Charlotte J. Dommering, Őzgür Sancak, Anneke Maat-Kievit, Alwin Adriaans, Marieke Jh Baars, Miriam Goedbloed, Ans M.W. van den Ouweland, Marja W. Wessels, Dicky J. J. Halley
Publikováno v:
BMC Medical Genetics
Nellist, M, Sancak, O, Goedbloed, M, Adriaans, A, Wessels, M, Maat-Kievit, A, Baars, M, Dommering, C J, van den Ouweland, A & Halley, D 2008, ' Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex ', BMC Medical Genetics, vol. 9, pp. 10 . https://doi.org/10.1186/1471-2350-9-10
BMC Medical Genetics, Vol 9, Iss 1, p 10 (2008)
BMC Medical Genetics, 9. BioMed Central Ltd.
BMC Medical Genetics, 9. BioMed Central
BMC medical genetics, 9:10. BioMed Central
Nellist, M, Sancak, O, Goedbloed, M, Adriaans, A, Wessels, M, Maat-Kievit, A, Baars, M, Dommering, C J, van den Ouweland, A & Halley, D 2008, ' Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex ', BMC Medical Genetics, vol. 9, pp. 10 . https://doi.org/10.1186/1471-2350-9-10
BMC Medical Genetics, Vol 9, Iss 1, p 10 (2008)
BMC Medical Genetics, 9. BioMed Central Ltd.
BMC Medical Genetics, 9. BioMed Central
BMC medical genetics, 9:10. BioMed Central
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 ge
Autor:
Van Engelen, Klaartje, Topf, Ana, Keavney, Bernard D., Goodship, Judith A., Van der Velde, Enno T., Baars, Marieke J.H., Snijder, Simone, Moorman, Antoon F., Postma, Alex V., Mulder, Barbara J.M.
Publikováno v:
Heart; Apr2010, Vol. 96 Issue 8, p621-624, 4p, 1 Chart