Rezultaty - Wernstedt, Annekatrin
- Rezultaty 1 - 6 Rezultaty od 6
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1
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2
PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1 od Vogt, Julia, Wernstedt, Annekatrin, Ripperger, Tim, Pabst, Brigitte, Zschocke, Johannes, Kratz, Christian, Wimmer, Katharina
Wydane 2016Text -
3
AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides od Wimmer, Katharina, Schamschula, Esther, Wernstedt, Annekatrin, Traunfellner, Pia, Amberger, Albert, Zschocke, Johannes, Kroisel, Peter, Chen, Yunjia, Callens, Tom, Messiaen, Ludwine
Wydane 2020Text -
4
Functional PMS2 Hybrid Alleles Containing a Pseudogene-Specific Missense Variant Trace Back to a Single Ancient Intrachromosomal Recombination Event od Ganster, Christina, Wernstedt, Annekatrin, Kehrer-Sawatzki, Hildegard, Messiaen, Ludwine, Schmidt, Konrad, Rahner, Nils, Heinimann, Karl, Fonatsch, Christa, Zschocke, Johannes, Wimmer, Katharina
Wydane 2010Text -
5
Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL od Wernstedt, Annekatrin, Valtorta, Emanuele, Armelao, Franco, Togni, Roberto, Girlando, Salvatore, Baudis, Michael, Heinimann, Karl, Messiaen, Ludwine, Staehli, Noemie, Zschocke, Johannes, Marra, Giancarlo, Wimmer, Katharina
Wydane 2012Text -
6
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome od Baas, Annette F, Gabbett, Michael, Rimac, Milan, Kansikas, Minttu, Raphael, Martine, Nievelstein, Rutger AJ, Nicholls, Wayne, Offerhaus, Johan, Bodmer, Danielle, Wernstedt, Annekatrin, Krabichler, Birgit, Strasser, Ulrich, Nyström, Minna, Zschocke, Johannes, Robertson, Stephen P, van Haelst, Mieke M, Wimmer, Katharina
Wydane 2013Text