অনুসন্ধান ফলাফলগুলি - Uschi Lindert
- প্রদর্শন 1 - 6 ফলাফল এর 6
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1
The taste of heavy metals: Gene regulation by MTF-1 অনুযায়ী Viola Günther, Uschi Lindert, Walter Schaffner
প্রকাশিত 2012Revisão -
2
Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta অনুযায়ী Uschi Lindert, Mary Ann Weis, Jyoti Rai, Frank Seeliger, Ingrid Haußer, Tosso Leeb, David R. Eyre, Marianne Rohrbach, Cecilia Giunta
প্রকাশিত 2015Artigo -
3
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta অনুযায়ী Víctor Martínez‐Glez, Eulalia Valencia, José A. Caparrós‐Martín, Mona Aglan, Samia A. Temtamy, Jair Tenorio, Verónica Pulido, Uschi Lindert, Marianne Rohrbach, David R. Eyre, Cecilia Giunta, Pablo Lapunzina, Víctor L. Ruiz‐Pérez
প্রকাশিত 2011Artigo -
4
Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type অনুযায়ী Tim Van Damme, Alain Colige, Delfien Syx, Cecilia Giunta, Uschi Lindert, Marianne Rohrbach, Omid Aryani, Yasemin Alanay, Pelin Özlem Şimşek‐Kiper, Hester Y. Kroes, Koenraad Devriendt, Marc Thiry, Sofie Symoens, Anne De Paepe, Fransiska Malfait
প্রকাশিত 2016Artigo -
5
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta অনুযায়ী Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen M. Barnes, Patra Yeetong, MaryAnn Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena Makareeva, Andreas Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David R. Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan C. Marini, Vorasuk Shotelersuk
প্রকাশিত 2016Artigo -
6
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement অনুযায়ী 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
প্রকাশিত 2016Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Gene
Genetics
Mutation
Anatomy
Medicine
Biochemistry
Cell biology
Chemistry
Missense mutation
Molecular biology
Mutant
Osteogenesis imperfecta
Ehlers–Danlos syndrome
Endocrinology
Internal medicine
Proband
Procollagen peptidase
Type I collagen
Activator (genetics)
Collagen, type I, alpha 1
Dermatology
Enzyme
Extracellular matrix
Intracellular
Joint hypermobility
Locus (genetics)
Loss function
Metallothionein
Mutant protein