Resultados de búsqueda - Björn Fischer‐Zirnsak

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  1. 1
    MutationDistiller: user-driven identification of pathogenic DNA variants

    MutationDistiller: user-driven identification of pathogenic DNA variants por Daniela Hombach, Markus Schuelke, Ellen Knierim, Nadja Ehmke, Jana Marie Schwarz, Björn Fischer‐Zirnsak, Dominik Seelow

    Publicado 2019
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  2. 2
    Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa

    Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa por Maïlys Guillard, Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Éva Morava, Dirk J. Lefeber, Uwe Kornak, Ron A. Wevers

    Publicado 2009
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  3. 3
    Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1

    Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1 por Björn Fischer‐Zirnsak, Bert Callewaert, Phillipe Schröter, Paul Coucke, Claire Schlack, Claus‐Eric Ott, Manrico Morroni, Wolfgang Homann, Stefan Mundlos, Éva Morava, Anna Ficcadenti, Uwe Kornak

    Publicado 2014
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  4. 4
    VarFish: comprehensive DNA variant analysis for diagnostics and research

    VarFish: comprehensive DNA variant analysis for diagnostics and research por Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, Stefan Mundlos, Alexej Knaus, Uwe Kornak, Dominik Seelow, Lara Segebrecht, Malte Spielmann, Björn Fischer‐Zirnsak, Felix Boschann, Ute I. Scholl, Nadja Ehmke, Dieter Beule

    Publicado 2020
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  5. 5
    Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

    Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation por Bianca Hartmann, Timothy Wai, Hao Hu, Thomas MacVicar, Luciana Musante, Björn Fischer‐Zirnsak, Werner Stenzel, Ralph Gräf, Lambert van den Heuvel, Hans-Hilger Ropers, Thomas F Wienker, Christoph Hübner, Thomas Langer, Angela M. Kaindl

    Publicado 2016
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  6. 6
    Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

    Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation por Malcolm F. Howard, Yoshiko Murakami, Alistair T. Pagnamenta, Cornelia Daumer‐Haas, Björn Fischer‐Zirnsak, Jochen Hecht, David A. Keays, Samantha J.L. Knight, Uwe Kölsch, Ulrike Krüger, Steffen Leiz, Yusuke Maeda, Daphne B. Mitchell, Stefan Mundlos, John A. Phillips, Peter N. Robinson, Usha Kini, Jenny C. Taylor, Denise Horn, Taroh Kinoshita, Peter Krawitz

    Publicado 2014
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  7. 7
    Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

    Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases por Uirá Souto Melo, Robert Schöpflin, Rocío Acuña‐Hidalgo, Martin A. Mensah, Björn Fischer‐Zirnsak, Manuel Holtgrewe, Marius-Konstantin Klever, Seval Türkmen, Verena Heinrich, Ilina D. Pluym, Eunice Matoso, Sérgio B. Sousa, Pedro Louro, Wiebke Hülsemann, Monika Cohen, Andreas Dufke, Anna Latos‐Bieleńska, Martin Vingron, Vera M. Kalscheuer, Fabiola Quintero‐Rivera, Malte Spielmann, Stefan Mundlos

    Publicado 2020
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  8. 8
    Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

    Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome por Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G. Kant, Zornitza Stark, Valérie Cormier‐Daire, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach, Kirstin Hoff, Amit Kawalia, Holger Thiele, Janine Altmüller, Björn Fischer‐Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Céline Huber, Izabela Harabula, Malte Spielmann, Denise Horn, Uwe Kornak, Jochen Hecht, Peter Krawitz, Peter Nürnberg, Reiner Siebert, H Manzke, Stefan Mundlos

    Publicado 2014
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  9. 9
    Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

    Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome por Tomasz Żemojtel, Sebastian Köhler, Luisa Mackenroth, Marten Jäger, Jochen Hecht, Peter Krawitz, Luitgard Graul‐Neumann, Sandra C. Doelken, Nadja Ehmke, Malte Spielmann, Nancy Christine Øien, Michal R. Schweiger, Ulrike Krüger, Götz Frommer, Björn Fischer‐Zirnsak, Uwe Kornak, Ricarda Flöttmann, Amin Ardeshirdavani, Yves Moreau, Suzanna Lewis, Melissa Haendel, Damian Smedley, Denise Horn, Stefan Mundlos, Peter N. Robinson

    Publicado 2014
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  10. 10
    Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

    Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival por Vishwanathan Hucthagowder, Éva Morava, Uwe Kornak, Dirk J. Lefeber, Björn Fischer‐Zirnsak, Aikaterini Dimopoulou, Annika Aldinger, Ji-Won Choi, Elise Davis, Dianne Abuelo, Michael S. Adamowicz, Jumana Y. Al‐Aama, Lina Basel‐Vanagaite, Brianna Fernandez, Marie T. Greally, Gabriele Gillessen‐Kaesbach, Hülya Kayserili, Emmanuelle Lemyre, Mustafa Tekin, Seval Türkmen, Beyhan Tüysüz, Berrin Yüksel‐Konuk, Stefan Mundlos, Lionel Van Maldergem, Ron A. Wevers, Zsolt Urbán

    Publicado 2009
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  11. 11
    De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

    De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction por Nadja Ehmke, Luitgard Graul‐Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra KAYA KILIÇ, Anna Floriane Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M. Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Hölger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A. Bacino, Penelope E. Bonnen, Bernd Wollnik, Björn Fischer‐Zirnsak, Uwe Kornak

    Publicado 2017
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  12. 12
    Mutations in WNT1 Cause Different Forms of Bone Fragility

    Mutations in WNT1 Cause Different Forms of Bone Fragility por Katharina Keupp, Filippo Beleggia, Hülya Kayserili, Aileen M. Barnes, Magdalena Steiner, Oliver Semler, Björn Fischer‐Zirnsak, Gökhan Yigit, Claudia Y. Janda, Jutta Becker, Stefan Breer, Umut Altunoğlu, Johannes Grünhagen, Peter Krawitz, Jochen Hecht, Thorsten Schinke, Elena Makareeva, Ekkehart Lausch, Tufan Çankaya, José A. Caparrós‐Martín, Pablo Lapunzina, Samia A. Temtamy, Mona Aglan, Bernhard Zabel, Peer Eysel, Friederike Koerber, Sergey Leikin, K. Christopher García, Christian Netzer, Eckhard Schönaü, Víctor L. Ruiz‐Pérez, Stefan Mundlos, Michael Amling, Uwe Kornak, Joan C. Marini, Bernd Wollnik

    Publicado 2013
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  13. 13
    Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

    Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa por Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abigail Loh, Graham Wright, Jaron Liu, Elisa Rahikkala, Enikö K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Żemojtel, Conny M.A. van Ravenswaaij‐Arts, Roya Mostafavi, Irene Stolte‐Dijkstra, Sofie Symoens, L. Pajunen, Lihadh Al‐Gazali, David Meierhofer, Peter N. Robinson, Stefan Mundlos, Camilo E. Villarroel, Peter H. Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade, Uwe Kornak

    Publicado 2015
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  14. 14
    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders por Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach, Perrine Charles, Emily Alderman, Kathleen Brown, Maxime Cadieux‐Dion, Tracy Cartwright, Yanmin Chen, Carrie Costin, Sarah Fehr, Keely Fitzgerald, Emily Fleming, Kimberly Foss, Thoa K. Ha, Gabriele Hildebrand, Denise Horn, Shuxi Liu, Elysa J. Marco, Marie McDonald, Kirsty McWalter, Simone Race, Eric T. Rush, Yue Si, Carol Saunders, Anne Slavotinek, Sylvia Stöckler‐Ipsiroglu, Aida Telegrafi, Isabelle Thiffault, Erin Torti, Anne Chun‐Hui Tsai, Xin Wang, Muhammad Sohail Zafar, Boris Keren, Uwe Kornak, Cornelius F. Boerkoel, Ghayda Mirzaa, Nadja Ehmke

    Publicado 2019
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  15. 15
    Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

    Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa por Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero‐Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, Delfien Syx, Wouter Steyaert, Riet De Rycke, Alexander Hoischen, Erik-Jan Kamsteeg, Sunnie Wong, Monique van Scherpenzeel, Payman Jamali, Ulrich Brandt, Leo Nijtmans, Georg Christoph Korenke, Brian Hon‐Yin Chung, Christopher Chun Yu Mak, Ingrid Haußer, Uwe Kornak, Björn Fischer‐Zirnsak, Tim M. Strom, Thomas Meitinger, Yasemin Alanay, Gülen Eda Ütine, Kai Ching Peter Leung, Siavash Ghaderi‐Sohi, Paul Coucke, Sofie Symoens, Anne De Paepe, Christian Thiel, Tobias B. Haack, Fransiska Malfait, Éva Morava, Bert Callewaert, Ron A. Wevers

    Publicado 2017
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  16. 16
    Arterial tortuosity syndrome: 40 new families and literature review

    Arterial tortuosity syndrome: 40 new families and literature review por Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al‐Essa, Waheed Al-Manea, Damien Bonnet, Özlem Bostan, Odile Boute, Tiffany Busa, N Canham, Ergün Çil, Paul Coucke, Margot A. Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R. Deyle, Harry C. Dietz, Sophie Dupuis‐Girod, Eudice Fontenot, Björn Fischer‐Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Díez, Mohammed Z. Haider, Joshua S. Hardin, Xavier Jeunemaı̂tre, Eric W. Klee, Uwe Kornak, Manuel F. Landecho, Anne Debost‐Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, María A. Ramos‐Arroyo, Massimiliano Rossi, Mustafa A. Salih, Mohammed Zain Seidahmed, Élise Schaefer, Elisabeth Steichen‐Gersdorf, Şehime Gülsün Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R. Collins, Andrea Taylor, Elaine C. Davis, Yuri A. Zárate, Bert Callewaert

    Publicado 2018
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  17. 17
    PEDIA: prioritization of exome data by image analysis

    PEDIA: prioritization of exome data by image analysis por Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis E. Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg Borisov, Øivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer‐Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul‐Neumann, Karen W. Gripp, Yaron Gurovich, А.А. Гусина, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela M. Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, А. В. Лавров, Maximilian Leitheiser, Gholson J. Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martínez Carrascal, Diana Mitter, Laura Morlán Herrador, Guy Nadav, Markus M. Nöthen, Alfredo Orrico, Claus‐Eric Ott, Kristen Park, Borut Peterlin, Laura Pölsler, Annick Raas‐Rothschild, Linda M. Randolph, Nicole Revençu, Christina Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Goražd Rudolf, Ulrich A. Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin‐Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T. Thiel, Gundula Thiel, Alain Verloès, Irena Vrečar, Dagmar Wahl, Ingrid Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming Wai Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter Krawitz

    Publicado 2019
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