Resultats de la cerca - Neuhann, Teresa

Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations per Harasim, Thomas, Neuhann, Teresa, Behnecke, Anne, Stampfer, Miriam, Holinski-Feder, Elke, Abicht, Angela

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Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review per Lausmann, Hanna, Zacharias, Martin, Neuhann, Teresa M., Locher, Melanie K., Schettler, Karl F.

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Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer per Kast, Karin, Neuhann, Teresa M, Görgens, Heike, Becker, Kerstin, Keller, Katja, Klink, Barbara, Aust, Daniela, Distler, Wolfgang, Schröck, Evelin, Schackert, Hans K

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Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants per Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Mazzola, Pascale, Kieninger, Sinja, Xiao, Ting, Kellner, Ulrich, Neuhann, Teresa, Kelbsch, Carina, Tonagel, Felix, Wilhelm, Helmut, Kohl, Susanne, Wissinger, Bernd

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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia per Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya

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Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia per Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya

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Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies per Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Börger, Doris, Bohring, Axel, Schreml, Julia, Körtge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nürnberg, Gudrun, Nürnberg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit, Bolz, Hanno J.

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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia per Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.

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