অনুসন্ধান ফলাফলগুলি - Udo Trautmann
- প্রদর্শন 1 - 8 ফলাফল এর 8
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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation অনুযায়ী Anita Rauch, Juliane Hoyer, Sabine Guth, Christiane Zweier, Cornelia Kraus, Christian Becker, Martin Zenker, Ulrike Hüffmeier, Christian T. Thiel, Franz Rüschendorf, Peter Nürnberg, André Reis, Udo Trautmann
প্রকাশিত 2006Artigo -
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Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays অনুযায়ী Juliane Hoyer, Alexander Dreweke, C. Becker, Isabel Göhring, Christian T. Thiel, Maarit Peippo, Rami Rauch, Michael Hofbeck, Udo Trautmann, Christiane Zweier, Martin Zenker, Ulrike Hüffmeier, Cornelia Kraus, Arif B. Ekici, Franz Rüschendorf, Peter Nürnberg, André Reis, Anita Rauch
প্রকাশিত 2007Artigo -
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Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation অনুযায়ী Sarah A. Shoichet, Kirsten Hoffmann, Corinna Menzel, Udo Trautmann, Bettina A. Moser, Maria Hoeltzenbein, Bernard Échenne, M. W. Partington, Hans van Bokhoven, Claude Moraine, Jean‐Pierre Fryns, Jamel Chelly, Hans‐Dieter Rott, Hans‐Hilger Ropers, Vera M. Kalscheuer
প্রকাশিত 2003Artigo -
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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium অনুযায়ী Bernt Popp, Mandy Krumbiegel, Janina Grosch, Annika Sommer, Steffen Uebe, Zacharias Kohl, Sonja Plötz, Michaela Farrell, Udo Trautmann, Cornelia Kraus, Arif B. Ekici, Reza Asadollahi, Martin Regensburger, Katharina Günther, Anita Rauch, Frank Edenhofer, Jürgen Winkler, Beate Winner, André Reis
প্রকাশিত 2018Artigo -
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Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice অনুযায়ী Michael S. Kraft, Ion Cristian Cirstea, Anne K. Voss, Tim Thomas, Ina Goehring, Bilal N. Sheikh, Lavinia Gordon, Hamish S. Scott, Gordon K. Smyth, Mohammad Reza Ahmadian, Udo Trautmann, Martin Zenker, Marco Tartaglia, Arif B. Ekici, André Reis, Helmuth-Guenther Dörr, Anita Rauch, Christian T. Thiel
প্রকাশিত 2011Artigo -
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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature অনুযায়ী Nadine Hauer, Heinrich Sticht, Sangamitra Boppudi, Christian Büttner, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Dagmar Wieczorek, Jaqueline Kelkel, Anna‐Maria Jung, Steffen Uebe, Arif B. Ekici, Tilman Rohrer, André Reis, Helmuth‐Günther Dörr, Christian T. Thiel
প্রকাশিত 2017Artigo -
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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature অনুযায়ী Nadine Hauer, Bernt Popp, Schoeller Eva, Sarah Schuhmann, Karen E. Heath, Alfonso Hisado-Oliva, Patricia Klinger, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Erdmute Kunstmann, Dagmar Wieczorek, Steffen Uebe, Fulvia Ferrazzi, Christian Büttner, Arif B. Ekici, Anita Rauch, Heinrich Sticht, Helmuth‐Günther Dörr, André Reis, Christian T. Thiel
প্রকাশিত 2017Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Gene
Genetics
Medicine
Mutation
Bioinformatics
Chromosome
Internal medicine
Phenotype
Computational biology
Genetic testing
Genotype
Karyotype
Pathology
Pediatrics
Short stature
Atresia
Breakpoint
Candidate gene
Cardiology
Cell biology
Choanal atresia
Computer science
Copy-number variation
Data science
Disease
Endocrinology
Epigenetics
Etiology
Exome