Хайлтын үр дүнгүүд - Christian Netzer

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic hom... -н Angelika Bolte, Clara Velmans, Christian Netzer, Eva Thimm, Ali Tunҫ Tuncel, Friederike Bürger, Milan Hiersche, Christian Betz, Hanno Jörn Bolz

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TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta -н Julia Etich, Oliver Semler, Nicola L Stevenson, Alice Stephan, Roberta Besio, Nadia Garibaldi, Nadine Reintjes, Claudia Dafinger, Max Christoph Liebau, Ulrich Baumann, Matthias Mörgelin, Antonella Forlino, David J Stephens, Christian Netzer, Frank Zaucke, Mirko Rehberg

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Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB -н Antonia Howaldt, MD, Sandrine Lenglez, BSc, Clara Velmans, MD, Anne Maria Schultheis, MD, Thomas Clahsen, PhD, Mario Matthaei, MD, Jürgen Kohlhase, MD, Christian Vokuhl, MD, Reinhard Büttner, MD, Christian Netzer, MD, Jean-Baptiste Demoulin, PhD, Claus Cursiefen, MD, PhD

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P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases -н Hellen Lesmann, Shahida Moosa, Tori Pantel, Stanislav Rosnev, Alexander Hustinx, Behnam Javanmardi, Alexej Knaus, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Merle ten Hagen, Pilar Caro, Clara Velmans, Matthias Höller, Ibrahim Abdelrazek, Gehad Elmakkawy, Khoushoua Alaadin, Kimberly Christine Coetzer, Frédéric Ebstein, Sebastian Küry, Ebtesam Abdalla, Miriam Elbracht, Cordula Knopp, Annabelle Arlt, Claudio Graziano, Borovikov Artem, Annette Uwineza, Felix Marbach, Christian Netzer, Rami Abou Jamra, Markus Nöthen, Gholson Lyon, Peter Krawitz, Tzung-Chien Hsieh

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Human germline biallelic loss-of-function OSMR variants cause severe allergic diseaseHuman biallelic OSMR deficiency -н Simran Samra, Mehul Sharma, Julia Körholz, Yihui Liu, Alyssa James, Christina Michalski, Pariya Yousefi, Kate L. Del Bel, Henry Y. Lu, Ashish A. Sharma, Maja Tarailo-Graovac, Joshua Dalmann, Lily Buder, Bhavi Modi, Ralf Wiedemuth, Liam Golding, Britt Drögemöller, Géraldine Blanchard-Rohner, Christof Senger, Wingfield Rehmus, Julie S. Prendiville, Massimo Mangino, Colin J. Ross, Clara D.M. van Karnebeek, Wyeth W. Wasserman, Sergio D. Rosenzweig, Julie Niemela, Pascal M. Lavoie, P. M. Prathibha, Oliver Wegehaupt, Catherine M. Biggs, Michael Boehnke, Leena Kinnunen, Heikki A. Koistinen, Margaret L. McKinnon, Jonas Maximillian Breuer, Jana Schönenkorb, Robert Brock, Sarah Thull, Christian Netzer, Clara Velmans, Norah Altuwaijri, Issam R. Hamadah, Ruqaiah Altassan, Ahmed Alfares, Sateesh Maddirevula, Siddaramappa Jagdish Patil, Diana K. Bayer, Jonathan J. Lyons, Stuart E. Turvey

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