Výsledky vyhledávání - Helga Rehder
- Zobrazuji výsledky 1 - 4 z 4
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1
Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions Autor Bárbara Fritz, Christian Hallermann, J. Olert, Brigitte Fuchs, Marion Bruns, Mücevher Aslan, Stefan Schmidt, Wiltrud Coerdt, H Müntefering, Helga Rehder
Vydáno 2001Artigo -
2
BRCA2 Germline Mutations in Familial Pancreatic Carcinoma Autor Stephan A. Hahn, B. Greenhalf, I. Ellis, Mercedes Sina‐Frey, Harald Rieder, B. Korte, Berthold Gerdes, R. Kress, Andreas Ziegler, J. A. Raeburn, Donata Campra, Robert Grützmann, Helga Rehder, Μ. Rothmund, Wolff Schmiegel, John P. Neoptolemos, Detlef K. Bartsch
Vydáno 2003Artigo -
3
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) Autor Martin Zenker, Julia Mayerle, Markus M. Lerch, Andreas Tagariello, Klaus Zerres, Peter R. Durie, Matthias Beier, Georg Hülskamp, Celina Guzmán, Helga Rehder, Frits A. Beemer, Ben C.J. Hamel, P Vanlieferinghen, Ruth Gershoni‐Baruch, Marta Wey Vieira, Miroslav Dumić, Ron Auslender, Vera Lúcia Gil‐da‐Silva‐Lopes, Simone Steinlicht, Manfred Rauh, Stavit Shalev, Christian T. Thiel, Andreas Winterpacht, Yong Tae Kwon, Alexander Varshavsky, André Reis
Vydáno 2005Artigo -
4
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome Autor Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, Natalie Hauser, Rebecca L. Belmonte, G. R. Wilson, Daniëlle G.M. Bosch, Paula A. Bubulya, Vandana Shashi, Slavé Petrovski, Joshua K. Stone, Eun Young Park, Joris A. Veltman, Margje Sinnema, Connie T. R. M. Stumpel, Jos Draaisma, Joost Nicolai, Helger G. Yntema, Kristin Lindstrom, Bert B.A. de Vries, Tamison Jewett, Stephanie L. Santoro, Julie Vogt, Kristine Bachman, Andrea Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortüm, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria C. Bramswig, Franco Laccone, Jana Behunova, Helga Rehder, Christopher T. Gordon, Marlène Rio, Serge Romana, Sha Tang, Dima El‐Khechen, Megan T. Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P.A. Stegmann, Servi J.C. Stevens, Dong‐Er Zhang, David Traver, Xu Yao, Daniel G. MacArthur, Han G. Brunner, Grazia M.S. Mancini, R Myers, Laurie B. Owen, Ssang‐Taek Lim, David L. Stachura, Lisenka E.L.M. Vissers, E. Ahn
Vydáno 2016Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Internal medicine
Medicine
Abortion
Adenocarcinoma
Anatomy
Aneuploidy
Aplasia
BRCA2 Protein
Breast cancer
Cancer
Cancer research
Chromosome
Comparative genomic hybridization
Cytogenetics
Endocrinology
Exocrine pancreatic insufficiency
Frameshift mutation
Gene knockdown
Genetic counseling
Genetic testing
Germline
Germline mutation
Intellectual disability
Karyotype
Loss function
Monosomy
Mutation