Որոնման արդյունքները - Dagmar Wieczorek
- Ցուցադրվում են 1 - 20 արդյունքները 88
- Գնացեք Հաջորդ էջ
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Human facial dysostoses Dagmar Wieczorek
Հրապարակվել է 2013Revisão -
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Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum Sven Fischer, Hermann‐Josef Lüdecke, Dagmar Wieczorek, Stefan Böhringer, Gabriele Gillessen‐Kaesbach, Bernhard Horsthemke
Հրապարակվել է 2006Artigo -
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Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion Dagmar Wieczorek, Mario Krause, Frank Majewski, Beate Albrecht, Denise Horn, Olaf Rieß, Gabriele Gillessen‐Kaesbach
Հրապարակվել է 2000Artigo -
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A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome Deniz Kanber, Jacques C. Giltay, Dagmar Wieczorek, Corinna Zogel, Ron Hochstenbach, Almuth Caliebe, Alma Kuechler, Bernhard Horsthemke, Karin Buiting
Հրապարակվել է 2008Artigo -
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Effects of RANK-Ligand Antibody (Denosumab) Treatment on Bone Turnover Markers in a Girl With Juvenile Paget's Disease Corinna Grasemann, Michael M. Schündeln, M. Hövel, Bernd Schweiger, Christoph Bergmann, Ralf Herrmann, Dagmar Wieczorek, Bernhard Zabel, Regina Wieland, Berthold P. Hauffa
Հրապարակվել է 2013Artigo -
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Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR Diana Mitter, Karin Buiting, Ferdinand von Eggeling, Alma Kuechler, Thomas Liehr, Ulrike A. Mau‐Holzmann, Eva‐Christina Prott, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach
Հրապարակվել է 2006Artigo -
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Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature Maja von der Hagen, Mark Pivarcsi, Juliane Liebe, Horst von Bernuth, Nataliya Di Donato, Julia B. Hennermann, Christoph Bührer, Dagmar Wieczorek, Angela M. Kaindl
Հրապարակվել է 2014Revisão -
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Rare Copy Number Variants Are a Common Cause of Short Stature 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
Հրապարակվել է 2013Artigo -
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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... 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
Հրապարակվել է 2018Artigo -
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Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene 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
Հրապարակվել է 2013Artigo -
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Altered Development of NKT Cells, γδ T Cells, CD8 T Cells and NK Cells in a PLZF Deficient Patient 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
Հրապարակվել է 2011Artigo -
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Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome 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
Հրապարակվել է 2003Artigo -
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome 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
Հրապարակվել է 2014Artigo -
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Integrative analysis revealed the molecular mechanism underlying <scp>RBM</scp>10‐mediated splicing regulation 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
Հրապարակվել է 2013Artigo -
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RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA 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
Հրապարակվել է 2016Artigo -
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A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients 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
Հրապարակվել է 2009Artigo -
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The face of Noonan syndrome: Does phenotype predict genotype 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
Հրապարակվել է 2010Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Genetics
Gene
Medicine
Phenotype
Mutation
Exome sequencing
Intellectual disability
Missense mutation
Microcephaly
Loss function
Haploinsufficiency
Internal medicine
Pediatrics
Anatomy
Genotype
Cell biology
Chromosome
Craniofacial
Endocrinology
Exome
Hypotonia
Bioinformatics
Frameshift mutation
Neuroscience
Pathology
Short stature
Allele
Biochemistry
Chromatin