Torthaí cuardaigh - Dagmar Wieczorek

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  1. 1
    Human facial dysostoses

    Human facial dysostoses de réir Dagmar Wieczorek

    Foilsithe / Cruthaithe 2013
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  2. 2
    Family-based germline sequencing in children with cancer

    Family-based germline sequencing in children with cancer de réir Michaela Kuhlen, Julia Taeubner, Triantafyllia Brozou, Dagmar Wieczorek, Reiner Siebert, Arndt Borkhardt

    Foilsithe / Cruthaithe 2018
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  3. 3
    Computer-based recognition of dysmorphic faces

    Computer-based recognition of dysmorphic faces de réir Hartmut S. Loos, Dagmar Wieczorek, Rolf P. Würtz, Christoph von der Malsburg, Bernhard Horsthemke

    Foilsithe / Cruthaithe 2003
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  4. 4
    Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum

    Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum de réir Sven Fischer, Hermann‐Josef Lüdecke, Dagmar Wieczorek, Stefan Böhringer, Gabriele Gillessen‐Kaesbach, Bernhard Horsthemke

    Foilsithe / Cruthaithe 2006
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  5. 5
    Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

    Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion de réir Dagmar Wieczorek, Mario Krause, Frank Majewski, Beate Albrecht, Denise Horn, Olaf Rieß, Gabriele Gillessen‐Kaesbach

    Foilsithe / Cruthaithe 2000
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  6. 6
    Syndrome identification based on 2D analysis software

    Syndrome identification based on 2D analysis software de réir Stefan Böehringer, Tobias Vollmar, Christiane Tasse, Rolf P. Würtz, Gabriele Gillessen‐Kaesbach, Bernhard Horsthemke, Dagmar Wieczorek

    Foilsithe / Cruthaithe 2006
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  7. 7
    A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

    A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome de réir Deniz Kanber, Jacques C. Giltay, Dagmar Wieczorek, Corinna Zogel, Ron Hochstenbach, Almuth Caliebe, Alma Kuechler, Bernhard Horsthemke, Karin Buiting

    Foilsithe / Cruthaithe 2008
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  8. 8
    Effects of RANK-Ligand Antibody (Denosumab) Treatment on Bone Turnover Markers in a Girl With Juvenile Paget's Disease

    Effects of RANK-Ligand Antibody (Denosumab) Treatment on Bone Turnover Markers in a Girl With Juvenile Paget's Disease de réir Corinna Grasemann, Michael M. Schündeln, M. Hövel, Bernd Schweiger, Christoph Bergmann, Ralf Herrmann, Dagmar Wieczorek, Bernhard Zabel, Regina Wieland, Berthold P. Hauffa

    Foilsithe / Cruthaithe 2013
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  9. 9
    Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR

    Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR de réir Diana Mitter, Karin Buiting, Ferdinand von Eggeling, Alma Kuechler, Thomas Liehr, Ulrike A. Mau‐Holzmann, Eva‐Christina Prott, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach

    Foilsithe / Cruthaithe 2006
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  10. 10
    Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature

    Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature de réir Maja von der Hagen, Mark Pivarcsi, Juliane Liebe, Horst von Bernuth, Nataliya Di Donato, Julia B. Hennermann, Christoph Bührer, Dagmar Wieczorek, Angela M. Kaindl

    Foilsithe / Cruthaithe 2014
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  11. 11
    Rare Copy Number Variants Are a Common Cause of Short Stature

    Rare Copy Number Variants Are a Common Cause of Short Stature de réir Diana Zahnleiter, Steffen Uebe, Arif B. Ekici, Juliane Hoyer, Antje Wiesener, Dagmar Wieczorek, Erdmute Kunstmann, André Reis, Helmuth-Guenther Doerr, Anita Rauch, Christian T. Thiel

    Foilsithe / Cruthaithe 2013
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  12. 12
    Wilms' Tumor 1 Gene Expression Using a Standardized European LeukemiaNet-Certified Assay Compared to Other Methods for Detection of Minimal Residual Disease in Myelodysplastic Syndrome and Acute Myelogenous Leukemia after Allogeneic Blood Stem Cell Transplantation

    Wilms' Tumor 1 Gene Expression Using a Standardized European LeukemiaNet-Certified Assay Compared to Other Methods for Detection of Minimal Residual Disease in Myelodysplastic Synd... de réir Christina Rautenberg, Sabrina Pechtel, Barbara Hildebrandt, Beate Betz, Ariane Dienst, Kathrin Nachtkamp, Mustafa Kondakci, Stefanie Geyh, Dagmar Wieczorek, Rainer Haas, Ulrich Germing, Guido Kobbe, Thomas Schroeder

    Foilsithe / Cruthaithe 2018
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  13. 13
    Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

    Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene de réir Inga Freunscht, Bernt Popp, Rainer Blank, Sabine Endele, Ute Moog, Holger Petri, Eva‐Christina Prott, André Reis, Jochen Rübo, Bernhard Zabel, Martin Zenker, Johannes Hebebrand, Dagmar Wieczorek

    Foilsithe / Cruthaithe 2013
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  14. 14
    Altered Development of NKT Cells, γδ T Cells, CD8 T Cells and NK Cells in a PLZF Deficient Patient

    Altered Development of NKT Cells, γδ T Cells, CD8 T Cells and NK Cells in a PLZF Deficient Patient de réir Maggie Eidson, Justin T. Wahlstrom, Aimee M. Beaulieu, Bushra Zaidi, Steven E. Carsons, Peggy Crow, Jianda Yuan, Jedd D. Wolchok, Bernhard Horsthemke, Dagmar Wieczorek, Derek B. Sant’Angelo

    Foilsithe / Cruthaithe 2011
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  15. 15
    Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

    Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome de réir Luciana Musante, Hans-Gerd Kehl, Frank Majewski, Peter Meinecke, Susann Schweiger, Gabriele Gillessen‐Kaesbach, Dagmar Wieczorek, Georg Klaus Hinkel, Sigrid Tinschert, Maria Hoeltzenbein, Hans‐Hilger Ropers, Vera M. Kalscheuer

    Foilsithe / Cruthaithe 2003
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  16. 16
    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome de réir Élise Schaefer, Corinne Collet, David Geneviève, Marie Vincent, Dietmar Lohmann, Elodie Sanchez, Chantal Bolender, Marie‐Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno, Dagmar Wieczorek, Lionel Van Maldergem, Bérénice Doray

    Foilsithe / Cruthaithe 2014
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  17. 17
    Integrative analysis revealed the molecular mechanism underlying <scp>RBM</scp>10‐mediated splicing regulation

    Integrative analysis revealed the molecular mechanism underlying <scp>RBM</scp>10‐mediated splicing regulation de réir Yongbo Wang, Andreas Gogol‐Döring, Hao Hu, Sebastian Fröhler, Yunxia Ma, Marvin Jens, Jonas Maaskola, Yasuhiro Murakawa, Claudia Quedenau, Markus Landthaler, Vera M. Kalscheuer, Dagmar Wieczorek, Yang Wang, Yuhui Hu, Wei Chen

    Foilsithe / Cruthaithe 2013
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  18. 18
    RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

    RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA de réir Christine Wolf, Alexander Rapp, Nicole Berndt, Wolfgang Staroske, Max Schuster, Manuela Dobrick-Mattheuer, Stefanie Kretschmer, N. König, Thomas Kurth, Dagmar Wieczorek, Karin Kast, M. Cristina Cardoso, Claudia Günther, Min Ae Lee‐Kirsch

    Foilsithe / Cruthaithe 2016
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  19. 19
    A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

    A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients de réir Hartmut Engels, Eva Wohlleber, Alexander M. Zink, Juliane Hoyer, Kerstin U. Ludwig, Felix F. Brockschmidt, Dagmar Wieczorek, Ute Moog, Birgit Hellmann-Mersch, Ruthild G. Weber, Lionel Willatt, Martina Kreiß‐Nachtsheim, Helen V. Firth, Anita Rauch

    Foilsithe / Cruthaithe 2009
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  20. 20
    The face of Noonan syndrome: Does phenotype predict genotype

    The face of Noonan syndrome: Does phenotype predict genotype de réir Judith Allanson, Axel Bohring, Helmuth‐Guenther Dörr, Andreas Dufke, G Gillessen‐Kaesbach, Denise Horn, Rainer König, Christian P. Kratz, Kerstin Kutsche, Silke Pauli, Salmo Raskin, Anita Rauch, Anne‐Marie W. Turner, Dagmar Wieczorek, Martin Zenker

    Foilsithe / Cruthaithe 2010
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