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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