תוצאות חיפוש - Margaret Yang
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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm מאת Mark E. Lindsay, Dorien Schepers, Nikhita Bolar, Jefferson J. Doyle, Elena Gallo, Justyna Fert‐Bober, Marlies Kempers, Elliot K. Fishman, Yi‐Chun Chen, Loretha Myers, Djahita Bjeda, Gretchen Oswald, Abdallah F. Elias, Howard P. Levy, Britt-Marie Anderlid, Margaret Yang, Ernie M.H.F. Bongers, Janneke Timmermans, Alan C. Braverman, Natalie Canham, Geert Mortier, Han G. Brunner, Peter H. Byers, Jennifer E. Van Eyk, Lut Van Laer, Harry C. Dietz, Bart Loeys
יצא לאור 2012Artigo -
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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement מאת Ines Kapferer‐Seebacher, Melanie Pepin, Roland Werner, Timothy J. Aitman, Ann Nordgren, Heribert Stoiber, Nicole M. Thielens, Christine Gaboriaud, Albert Amberger, Anna Schossig, Robert Gruber, Cecilia Giunta, Michael J. Bamshad, Erik Björck, Christina Chen, David Chitayat, Michael O. Dorschner, Marcus Schmitt‐Egenolf, Christopher J. Hale, D. Hanna, Hans Christian Hennies, Irene Heiss‐Kisielewsky, Anna Lindstrand, Pernilla Lundberg, Anna L. Mitchell, Deborah A. Nickerson, Eyal Reinstein, Marianne Rohrbach, Nikolaus Romani, Matthias Schmuth, Rachel Silver, Fulya Taylan, Anthony Vandersteen, Jana Vandrovcová, Ruwan Weerakkody, Margaret Yang, F M Pope, Peter H. Byers, Johannes Zschocke, Kirk Aleck, Zoltán Bánki, József Dudás, Herbert Dumfahrt, Hady Haririan, James K. Hartsfield, Charles N. Kagen, Uschi Lindert, Thomas Meitinger, Wilfried Posch, Christian Pritz, David M. Ross, Richard J. Schroer, Georg Wick, Robert S. Wildin, Doris Wilflingseder
יצא לאור 2016Artigo
כלי חיפוש:
נושאים קשורים
Biology
Gene
Genetics
Medicine
Anatomy
Aorta
Aortic aneurysm
Autocrine signalling
Cancer research
Cell biology
Ehlers–Danlos syndrome
Fibrillin
Growth factor
Haploinsufficiency
Internal medicine
Joint hypermobility
Locus (genetics)
Marfan syndrome
Missense mutation
Mutation
Pathology
Phenotype
Proband
R-SMAD
Receptor
Signal transduction
TGF alpha
Thoracic aortic aneurysm
Transforming growth factor
Transforming growth factor beta