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Annekatrin Wernstedt

Showing results (1-10 of 11) with videos related to

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Methods in Molecular Biology (Clifton, N.J.)|May 15, 2014
PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interferenceKatharina Wimmer, Annekatrin Wernstedt
Plos Genetics|November 30, 2011
The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertionKatharina Wimmer, Tom Callens, Annekatrin Wernstedt, et al.
European Journal of Human Genetics : EJHG|June 23, 2016
PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1Julia Vogt, Annekatrin Wernstedt, Tim Ripperger, et al.
Human Mutation|March 4, 2020
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotidesKatharina Wimmer, Esther Schamschula, Annekatrin Wernstedt, et al.
Human Mutation|February 27, 2010
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination eventChristina Ganster, Annekatrin Wernstedt, Hildegard Kehrer-Sawatzki, et al.
Biomolecules|October 27, 2022
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in TumorigenesisEsther Schamschula, Miriam Kinzel, Annekatrin Wernstedt, et al.
Genes, Chromosomes & Cancer|May 16, 2012
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CLAnnekatrin Wernstedt, Emanuele Valtorta, Franco Armelao, et al.
Genes, Chromosomes & Cancer|May 1, 2013
Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiencyMagdalena Chmara, Annekatrin Wernstedt, Bartosz Wasag, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testingLaura Pölsler, Heidi Fiegl, Katharina Wimmer, et al.
European Journal of Human Genetics : EJHG|June 14, 2012
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndromeAnnette F Baas, Michael Gabbett, Milan Rimac, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Methods in Molecular Biology (Clifton, N.J.)|May 15, 2014
PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interferenceKatharina Wimmer, Annekatrin Wernstedt
Plos Genetics|November 30, 2011
The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertionKatharina Wimmer, Tom Callens, Annekatrin Wernstedt, et al.
European Journal of Human Genetics : EJHG|June 23, 2016
PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1Julia Vogt, Annekatrin Wernstedt, Tim Ripperger, et al.
Human Mutation|March 4, 2020
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotidesKatharina Wimmer, Esther Schamschula, Annekatrin Wernstedt, et al.
Human Mutation|February 27, 2010
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination eventChristina Ganster, Annekatrin Wernstedt, Hildegard Kehrer-Sawatzki, et al.
Biomolecules|October 27, 2022
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in TumorigenesisEsther Schamschula, Miriam Kinzel, Annekatrin Wernstedt, et al.
Genes, Chromosomes & Cancer|May 16, 2012
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CLAnnekatrin Wernstedt, Emanuele Valtorta, Franco Armelao, et al.
Genes, Chromosomes & Cancer|May 1, 2013
Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiencyMagdalena Chmara, Annekatrin Wernstedt, Bartosz Wasag, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testingLaura Pölsler, Heidi Fiegl, Katharina Wimmer, et al.
European Journal of Human Genetics : EJHG|June 14, 2012
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndromeAnnette F Baas, Michael Gabbett, Milan Rimac, et al.
Pageof 2