Výsledky vyhledávání - Andreas Laner

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  1. 1
    Stepwise ABC system for classification of any type of genetic variant

    Stepwise ABC system for classification of any type of genetic variant Autor Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen

    Vydáno 2021
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  2. 2
    Biallelic MUTYH mutations can mimic Lynch syndrome

    Biallelic MUTYH mutations can mimic Lynch syndrome Autor Monika Morak, Barbara Heidenreich, Gisela Keller, Heather Hampel, Andreas Laner, Albert de la Chapelle, Elke Holinski‐Feder

    Vydáno 2014
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  3. 3
    Reclassification of VUS in BRCA1 and BRCA2 using the new “BRCA1/BRCA2 ENIGMA track set” demonstrates the superiority of ClinGen´s ENIGMA Expert Panel Specifications over the standard ACMG/AMP classification system

    Reclassification of VUS in BRCA1 and BRCA2 using the new “BRCA1/BRCA2 ENIGMA track set” demonstrates the superiority of ClinGen´s ENIGMA Expert Panel Specifications over the standa... Autor Anna Benet‐Pagès, Andreas Laner, Luis R Nassar, Tobias Wohlfrom, Verena Steinke‐Lange, Maximilian Haeussler, Elke Holinski‐Feder

    Vydáno 2025
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  4. 4
    Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes

    Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes Autor Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara‐Schmidt, Corinna Preuße, Andreas Laner, Angela Abicht, Tobias Ruck, Joachim Weis, Catherine M Choueiri, Hanns Lochmüller, Heike Kölbel, Andreas Roos

    Vydáno 2024
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  5. 5
    Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies

    Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies Autor Gordian Lukas Schmid, Franziska Kässner, Holm H. Uhlig, Antje Körner, Jürgen Kratzsch, Norman Händel, F. Zepp, Frank Kowalzik, Andreas Laner, Sven Starke, Franziska Wilhelm, Susanne Schuster, Adrian Viehweger, W. Hirsch, Wieland Kieß, Antje Garten

    Vydáno 2013
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  6. 6
    Low-level<i>APC</i>mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

    Low-level<i>APC</i>mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases Autor Isabel Spier, Dmitriy Drichel, Martin Kerick, Jutta Kirfel, Sukanya Horpaopan, Andreas Laner, Stefanie Holzapfel, Sophia Peters, R. Adam, Bixiao Zhao, Tim Becker, Richard P. Lifton, Sven Perner, Per Hoffmann, Glen Kristiansen, Bernd Timmermann, Markus M. Nöthen, Elke Holinski‐Feder, Michal R. Schweiger, Stefan Aretz

    Vydáno 2015
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  7. 7
    Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

    Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis Autor Isabel Spier, Martin Kerick, Dmitriy Drichel, Sukanya Horpaopan, Janine Altmüller, Andreas Laner, Stefanie Holzapfel, Sophia Peters, R. Adam, Bixiao Zhao, Tim Becker, Richard P. Lifton, Elke Holinski‐Feder, Sven Perner, Hölger Thiele, Markus M. Nöthen, Per Hoffmann, Bernd Timmermann, Michal R. Schweiger, Stefan Aretz

    Vydáno 2016
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  8. 8
    <i>LAMA2</i>gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes

    <i>LAMA2</i>gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes Autor Jorge Oliveira, Angela Gruber, Márcio Cardoso, Ricardo Taipa, Isabel Fineza, Ana Gonçalves, Andreas Laner, Thomas Winder, Jocelyn A. Schroeder, Julie Rath, Márcia E. Oliveira, Emília Vieira, Ana Paula Sousa, José Pedro Vieira, Teresa Lourenço, Luciano Almendra, Luís Negrão, Manuela Santos, Manuel Melo Pires, Teresa Coelho, Johan T. den Dunnen, Rosário Santos, Mário Sousa

    Vydáno 2018
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  9. 9
    Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

    Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis Autor Sukanya Horpaopan, Isabel Spier, Alexander M. Zink, Janine Altmüller, Stefanie Holzapfel, Andreas Laner, Stefanie Vogt, Siegfried Uhlhaas, Stefanie Heilmann‐Heimbach, Dietlinde Stienen, Sandra M. Pasternack, Kathleen Keppler, R. Adam, Katrin Kayser, Susanne Moebus, Markus Draaken, Franziska Degenhardt, Hartmut Engels, Andrea Hofmann, Markus M. Nöthen, Verena Steinke, Alberto Pérez-Bouza, Stefan Herms, Elke Holinski‐Feder, Holger Fröhlich, Hölger Thiele, Per Hoffmann, Stefan Aretz

    Vydáno 2014
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  10. 10
    Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

    Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis Autor R. Adam, Isabel Spier, Bixiao Zhao, Michael Kloth, Jonathan Marquez, Inga Hinrichsen, Jutta Kirfel, Aylar Tafazzoli, Sukanya Horpaopan, Siegfried Uhlhaas, Dietlinde Stienen, Nicolaus Friedrichs, Janine Altmüller, Andreas Laner, Stefanie Holzapfel, Sophia Peters, Katrin Kayser, Hölger Thiele, Elke Holinski‐Feder, Giancarlo Marra, Glen Kristiansen, Markus M. Nöthen, Reinhard Büttner, Gabriela Möslein, Regina C. Betz, Angela Brieger, Richard P. Lifton, Stefan Aretz

    Vydáno 2016
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  11. 11
    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

    Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Pa... Autor Isabel Spier, Xiaoyu Yin, Marcy E. Richardson, Marta Pineda, Andreas Laner, Deborah Ritter, Julie Boyle, Pilar Mur, Thomas van Overeem Hansen, Xuemei Shi, Khalid Mahmood, John‐Paul Plazzer, Elisabet Ognedal, Margareta Nordling, Susan M. Farrington, Gou Yamamoto, Stéphanie Baert‐Desurmont, Alexandra Martins, Ester Borràs, Carli M.J. Tops, Erica Webb, Victoria Beshay, Maurizio Genuardi, Tina Pesaran, Gabriel Capellà, Sean V. Tavtigian, Andrew Latchford, Ian M. Frayling, Sharon E. Plon, Marc S. Greenblatt, Finlay Macrae, Stefan Aretz

    Vydáno 2023
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  12. 12
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data Autor Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Prasanth Sivakumar, Peter N. Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda de Voer, Stefan Aretz, Gabriel Capellà, Richarda M. de Voer, D. Gareth Evans, José Garcia‐Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Annalaura Torella, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Rita Horváth, Henry Houlden, Mridul Johari, Jarred Lau

    Vydáno 2021
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