Výsledky vyhledávání - Karl Sperling
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Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition Autor Heidemarie Neitzel, Luitgard M. Neumann, Detlev Schindler, Andreas Wirges, Holger Tönnies, Marc Trimborn, Alice Krebsová, Reyk Richter, Karl Sperling
Vydáno 2002Artigo -
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Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations Autor Raymonda Varon, E Seemanová, Krystyńa Chrzańowska, Oleg Hnateyko, Dorota Piekutowska‐Abramczuk, Małgorzata Krajewska‐Walasek, Jolanta Sykut‐Cegielska, Karl Sperling, André Reis
Vydáno 2000Artigo -
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Mutations in Microcephalin Cause Aberrant Regulation of Chromosome Condensation Autor Marc Trimborn, Sandra Bell, Clive Felix, Yasmin Abdul Rashid, Hussain Jafri, Paul Griffiths, Luitgard M. Neumann, Alice Krebs, André Reis, Karl Sperling, Heidemarie Neitzel, Andrew P. Jackson
Vydáno 2004Artigo -
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Increased cancer risk of heterozygotes with <i>NBS1</i> germline mutations in poland Autor Jan Steffen, Raymonda Varon, Maria Mosor, Galina Stoyanova Maneva, Martin Maurer, Markus Stümm, Dorota Nowakowska, Maryna Rubach, Ewa Kosakowska, W. Ruka, Zbigniew Nowecki, Piotr Rutkowski, Tomasz Demkow, Małgorzata Sadowska, Mariusz Bidziński, Krzysztof Gawrychowski, Karl Sperling
Vydáno 2004Artigo -
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DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes Autor Melanie Ehrlich, Kent L. Buchanan, Fern Tsien, Guanchao Jiang, Baodong Sun, William C. Uicker, Corry M.R. Weemaes, Dominique Smeets, Karl Sperling, Bernd H. Belohradsky, Niels Tommerup, David E. Misek, Jean Marie Rouillard, Rork Kuick, Samir Hanash
Vydáno 2001Artigo -
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Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome Autor Raymonda Varon, Christine Vissinga, Matthias Platzer, Karen Cerosaletti, Krystyńa Chrzańowska, Kathrin Saar, Georg Beckmann, E Seemanová, Paul R. Cooper, Norma J. Nowak, Markus Stümm, Corry M.R. Weemaes, Richard A. Gatti, Richard K. Wilson, Martin Digweed, André Rosenthal, Karl Sperling, Patrick Concannon, André Reis
Vydáno 1998Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
DNA
Ataxia-telangiectasia
DNA damage
Chromosome
Medicine
Molecular biology
Mutation
Nijmegen breakage syndrome
Microcephaly
Allele
Cancer research
Cell
Cell cycle
Gene expression
Internal medicine
Premature chromosome condensation
Aneuploidy
Cancer
Cell biology
Chromosome instability
DNA methylation
DNA repair
DNA-binding protein
Heterozygote advantage
Meiosis
Nondisjunction
Oncology