Hakutulokset - Dagmar Huhle
- Näytetään 1 - 4 yhteensä 4 tuloksesta
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1
Mitotic Stability of Small Supernumerary Marker Chromosomes: A Study Based on 93 Immortalized Cell Lines Tekijä Hannes Spittel, Florian Kubek, Katharina Kreskowski, Monika Ziegler, Elisabeth Klein, Ahmed B. Hamid, Nadezda Kosyakova, Gopakumar Radhakrishnan, Annelore Junge, P. Kozlowski, Berndt Schulze, Thomas C. Martin, Dagmar Huhle, Karl Mehnert, Laura Rodríguez, Mehmet Ali Ergün, Catherine Sarri, Mariela Militaru, Fedora Stipoljev, H. Tittelbach, Faezeh Vasheghani, Marcelo de Bello Cioffi, Shaymaa Subhi Hussein, Xiaobo Fan, Marianne Volleth, Thomas Liehr
Julkaistu 2014Artigo -
2
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read... Tekijä Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller, Bodo B. Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike Korbmacher, Dagmar Huhle, Solaf M. Elsayed, Hesham M. Taha, Shahid Mahmood Baig, Heidi Stöhr, Markus N. Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel‐Wolfrum, Arif O. Khan, Hanno J. Bolz
Julkaistu 2017Artigo -
3
FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants Tekijä Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans-Martin Büttel, Julie S. Cohen, Elizabeth Conover, Carolina Courage, Angelika Eger, Ali Fatemi, Theresa A. Grebe, Natalie Hauser, Wolfram Heinritz, Katherine L. Helbig, Marion Heruth, Dagmar Huhle, Karen Höft, Stephanie Karch, Gerhard Kluger, Georg Christoph Korenke, Johannes R. Lemke, Richard E. Lutz, Steffi Patzer, Isabelle Prehl, Konstanze Hoertnagel, Keri Ramsey, Tina Rating, Angelika Rieß, Luis Rohena, Mareike Schimmel, Rachel Westman, Frank-Martin Zech, Barbara Zoll, Dörthe Malzahn, Birgit Zirn, Knut Brockmann
Julkaistu 2017Artigo -
4
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons Tekijä Scott C. Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Jean-Francois Theroux, Malvin Jefri, Arnaud Tanti, Hanrong Wu, Ilaria Kolobova, Heika Silviera, Karla Manzano-Vargas, Sophie Ehresmann, Fadi F. Hamdan, Nuwan C. Hettige, Xin Zhang, Lilit Antonyan, Christina Nassif, Lina Ghaloul‐Gonzalez, Jessica Sebastian, Jerry Vockley, Amber G. Begtrup, Ingrid M. Wentzensen, Amy Crunk, Robert D. Nicholls, Kristin Herman, Joshua L. Deignan, Walla Al‐Hertani, Stéphanie Efthymiou, Vincenzo Salpietro, Noriko Miyake, Yoshio Makita, Naomichi Matsumoto, Rune Østern, Gunnar Houge, Maria Hafström, Emily Fassi, Henry Houlden, Jolien S. Klein Wassink‐Ruiter, Dominic Nelson, Amy Goldstein, Tabib Dabir, Julien Van‐Gils, Thomas Bourgeron, Richard Delorme, Gregory M. Cooper, José E. Martínez, Candice R. Finnila, Lionel Carmant, Anne Lortie, Renske Oegema, Koen L.I. van Gassen, Sarju Mehta, Dagmar Huhle, Rami Abou Jamra, Sonja Martin, Han G. Brunner, Dick Lindhout, Margaret Au, John M. Graham, Christine Coubes, Gustavo Turecki, Simon Gravel, Naguib Mechawar, Elsa Rossignol, Jacques L. Michaud, Julie Lessard, Carl Ernst, Philippe M. Campeau
Julkaistu 2019Artigo
Työkalut:
Liittyvät aiheet
Biology
Gene
Genetics
Medicine
Mutation
Phenotype
Anatomy
Bioinformatics
Cell biology
Chromosome
Copy-number variation
Dicentric chromosome
Epilepsy
Exact test
Exon
Frameshift mutation
Genome
Genotype
In vitro
Internal medicine
Karyotype
Lead (geology)
Missense mutation
Mitosis
Multiplex ligation-dependent probe amplification
Neuroscience
Nonsense
Paleontology
Phenocopy
Point mutation