תוצאות חיפוש - Christian Netzer

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  1. 1
    SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin

    SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin מאת Christian Netzer

    יצא לאור 2001
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    Artigo
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  2. 2
    An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis

    An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis מאת Dagmar Schmitz, Christian Netzer, Wolfram Henn

    יצא לאור 2009
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    Revisão
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  3. 3
    Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI

    Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI מאת Heike Hoyer‐Kuhn, Christian Netzer, Friederike Koerber, Eckhard Schöenau, Oliver Semler

    יצא לאור 2014
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    Artigo
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  4. 4
    Osteogenesis imperfecta—pathophysiology and therapeutic options

    Osteogenesis imperfecta—pathophysiology and therapeutic options מאת Julia Etich, Lennart Leßmeier, Mirko Rehberg, Helge Sill, Frank Zaucke, Christian Netzer, Oliver Semler

    יצא לאור 2020
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    Revisão
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  5. 5
    Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

    Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG) מאת Christine Lainé, Boi-Dinh Chung, Miki Susic, Trine Prescott, Oliver Semler, Torunn Fiskerstrand, P D’Eufemia, Marco Castori, Minna Pekkinen, Etienne Sochett, William G. Cole, Christian Netzer, Outi Mäkitie

    יצא לאור 2011
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    Artigo
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  6. 6
    A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

    A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus מאת Oliver Semler, Lutz Garbes, Katharina Keupp, Daniel Swan, Katharina Zimmermann, Jutta Becker, Sandra Iden, Brunhilde Wirth, Peer Eysel, Friederike Koerber, Eckhard Schöenau, Stefan K. Bohlander, Bernd Wollnik, Christian Netzer

    יצא לאור 2012
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    Artigo
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  7. 7
    Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

    Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex מאת Sonja Stahl, Sabine Gaetzner, Katrin Voß, Bettina Brackertz, Elisa Schleider, Oǧuzkan Sürücü, E. Kunze, Christian Netzer, Christoph Korenke, Ulrich Finckh, Mario Habek, Zdravka Poljaković, Miriam Elbracht, Sabine Rudnik–Schöneborn, Helmut Bertalanffy, Ulrich Sure, Ute Felbor

    יצא לאור 2008
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    Artigo
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  8. 8
    Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

    Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta מאת Jutta Becker, Oliver Semler, Christian Gilissen, Yun Li, Hanno J. Bolz, Cecilia Giunta, Carsten Bergmann, Marianne Rohrbach, Friederike Koerber, Katharina Zimmermann, Petra de Vries, Brunhilde Wirth, Eckhard Schöenau, Bernd Wollnik, Joris A. Veltman, Alexander Hoischen, Christian Netzer

    יצא לאור 2011
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    Artigo
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  9. 9
    The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

    The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping מאת Felix Marbach, Cecilie F. Rustad, Angelika Rieß, Dejan Đukić, Tzung‐Chien Hsieh, Itamar Jobani, Trine Prescott, Andrea Bevot, Florian Erger, Gunnar Houge, Maria Redfors, Janine Altmueller, Tomasz Stokowy, Christian Gilissen, Christian Kubisch, Emanuela Scarano, Laura Mazzanti, Torunn Fiskerstrand, Peter Krawitz, Davor Lessel, Christian Netzer

    יצא לאור 2019
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    Artigo
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  10. 10
    Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

    Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish מאת P. V. Asharani, Katharina Keupp, Oliver Semler, Wenshen Wang, Yun Li, Hölger Thiele, Gökhan Yigit, Esther Pohl, Jutta Becker, Peter Frommolt, C. Sonntag, Janine Altmüller, Katharina Zimmermann, Daniel S. Greenspan, Nurten Akarsu, Christian Netzer, Eckhard Schönaü, Radu Wirth, Matthias Hammerschmidt, Peter Nürnberg, Bernd Wollnik, Thomas J. Carney

    יצא לאור 2012
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    Artigo
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  11. 11
    Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

    Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta מאת Lutz Garbes, Kyung‐Ho Kim, Angelika Rieß, Heike Hoyer‐Kuhn, Filippo Beleggia, Andrea Bevot, Mi Jeong Kim, Yang Hoon Huh, Hee-Seok Kweon, Ravi Savarirayan, David J. Amor, Purvi M. Kakadia, Tobias Lindig, Karl Oliver Kagan, Jutta Becker, Simeon A. Boyadjiev, Bernd Wollnik, Oliver Semler, Stefan K. Bohlander, Jin Oh Kim, Christian Netzer

    יצא לאור 2015
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    Artigo
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  12. 12
    LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

    LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome מאת Yun Li, Barbara Pawlik, Nursel Elçioğlu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, E. Ferda Perçin, Frances R. Goodman, Gudrun Nürnberg, Asım Cenani, Jill Urquhart, Boi-Dinh Chung, Samira Ismail, Khalda Amr, Ayça Dilruba Aslanger, Christian Becker, Christian Netzer, Peter Scambler, Wafaa Eyaid, Hanan Hamamy, Jill Clayton‐Smith, Raoul C. M. Hennekam, Peter Nürnberg, Joachim Herz, Samia A. Temtamy, Bernd Wollnik

    יצא לאור 2010
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    Artigo
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  13. 13
    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 מאת 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

    יצא לאור 2017
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    Artigo
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  14. 14
    Mutations in WNT1 Cause Different Forms of Bone Fragility

    Mutations in WNT1 Cause Different Forms of Bone Fragility מאת 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

    יצא לאור 2013
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    Artigo
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  15. 15
    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta מאת Shahida Moosa, Guilherme Lopes Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza‐Meireles, Carolina Moreno, Eugênia Ribeiro Valadares, Sérgio B. Sousa, Sofia Maia, Jorge Saraiva, Rachel Sayuri Honjo, Chong Ae Kim, Hamilton Cabral De Menezes, Ekkehart Lausch, Pablo Villavicencio Lorini, Arsonval Lamounier, Tulio Canella Bezerra Carniero, Cecilia Giunta, Marianne Rohrbach, Marco Janner, Oliver Semler, Filippo Beleggia, Yun Li, Gökhan Yigit, Nadine Reintjes, Janine Altmüller, Peter Nürnberg, Denise P. Cavalcanti, Bernhard Zabel, Matthew L. Warman, Débora Romeo Bertola, Bernd Wollnik, Christian Netzer

    יצא לאור 2019
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    Artigo
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  16. 16
    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 מאת Nina Bögershausen, Vincent Gâtinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Şimşek‐Kiper, Mouna Barat‐Houari, Nursel Elçioğlu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoğlu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier‐Daire, Damien Sanlaville, Fabienne Giuliano, Kim‐Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroğlu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloès, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit, Bernd Wollnik

    יצא לאור 2016
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    Artigo
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  17. 17
    Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

    Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2 מאת Fleur S van Dijk, Oliver Semler, Julia Etich, Anna M. Köhler, Juan A. Jimenez‐Estrada, Nathalie Bravenboer, Lauria Claeys, Elise Riesebos, Sejla Gegic, Sander R. Piersma, Connie R. Jiménez, Quinten Waisfisz, Carmen‐Lisset Flores, Julián Nevado, Arjan J. Harsevoort, Guus Janus, Anton Franken, Astrid M. van der Sar, Hanne Meijers‐Heijboer, Karen E. Heath, Pablo Lapunzina, Peter G. J. Nikkels, Gijs W.E. Santen, Julian Nüchel, Markus Plomann, Raimund Wagener, Mirko Rehberg, Heike Hoyer‐Kuhn, Elisabeth M. W. Eekhoff, Gerard Pals, Matthias Mörgelin, Simon Newstead, Brian T. Wilson, Víctor L. Ruiz‐Pérez, Alessandra Maugeri, Christian Netzer, Frank Zaucke, Dimitra Micha

    יצא לאור 2020
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    Artigo
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  18. 18
    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome מאת Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al‐Kindy, Anwar Baban, Allan Bayat, Stefanie Beck‐Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyńa Chrzańowska, Yoyo W. Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destrèe, Tracy Dudding‐Byth, Rachel K. Earl, Nursel Elçioğlu, Ellen Roy Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra KAYA KILIÇ, Małgorzata Krajewska‐Walasek, Kylin Lammers, Lone Walentin Laulund, Damien Lederer, Melissa Lees, Vanesa López‐González, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martı́nez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff M. Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl‐Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Mónica Roselló, Claudia Ruivenkamp, Mahmut Şamil Sağıroğlu, Suzanne C.E.H. Sallevelt, A. Sanchís Calvo, Pelin Özlem Şimşek‐Kiper, Gabriela Soares, Lucia Solaeche, Fatma Müjgan Sönmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyüp Üçtepe, Gülen Eda Ütine, Hermine E. Veenstra‐Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent‐Delorme, Anneke T. Vulto‐van Silfhout, Patricia G. Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek

    יצא לאור 2018
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    Artigo
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