نتائج البحث - Dimitra Micha
- يعرض 1 - 15 نتائج من 15
-
1
-
2
-
3
-
4
-
5
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients حسب Tamara Paff, Irsan Kooi, Youssef Moutaouakil, Elise Riesebos, Erik A. Sistermans, Hans Daniels, Janneke Weiss, Hans W.M. Niessen, Eric G. Haarman, Gerard Pals, Dimitra Micha
منشور في 2018Artigo -
6
Hypoxic human cancer cells are sensitized to BH-3 mimetic–induced apoptosis via downregulation of the Bcl-2 protein Mcl-1 حسب Luke Harrison, Dimitra Micha, Martin Brandenburg, Kathryn Simpson, Christopher J. Morrow, O. Denneny, Cassandra L. Hodgkinson, Zaira Yunus, Clare Dempsey, Darren L. Roberts, Fiona Blackhall, Guy Makin, Caroline Dive
منشور في 2011Artigo -
7
Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature حسب Sara J. E. Verdonk, Silvia Storoni, Dimitra Micha, Joost G. van den Aardweg, Paolo Versacci, Luca Celli, Ralph de Vries, Lidiia Zhytnik, Otto Kamp, Marianna Bugiani, Elisabeth M. W. Eekhoff
منشور في 2024Revisão -
8
<i>SMAD2</i>Mutations Are Associated with Arterial Aneurysms and Dissections حسب Dimitra Micha, Dongchuan Guo, Yvonne Hilhorst‐Hofstee, Fop van Kooten, Dian Atmaja, Eline Overwater, Ferdy Kurniawan Cayami, Ellen S. Regalado, R. Van Uffelen, Hanka Venselaar, Sultana MH Faradz, Gerrit Vriend, Marjan M. Weiss, Erik A. Sistermans, Alessandra Maugeri, Dianna M. Milewicz, Gerard Pals, Fleur S van Dijk
منشور في 2015Artigo -
9
Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia حسب Alexandros Onoufriadis, Tamara Paff, Dinu Antony, Amelia Shoemark, Dimitra Micha, Bertus Kuyt, Miriam Schmidts, Stavroula Petridi, Jeanette E. Dankert-Roelse, Eric G. Haarman, Johannes M.A. Daniels, Richard D. Emes, Robert Wilson, Claire Hogg, Peter Scambler, Eddie M.K. Chung, Gerard Pals, Hannah M. Mitchison
منشور في 2012Artigo -
10
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects حسب Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
منشور في 2016Artigo -
11
Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles حسب Elisabeth M. W. Eekhoff, Ruben D. de Ruiter, Bernard J. Smilde, Ton Schoenmaker, Teun J. de Vries, Coen Netelenbos, Edward C. Hsiao, Christiaan Scott, Nobuhiko Haga, Zvi Grunwald, Carmen L. De Cunto, Maja Di Rocco, Patricia Delai, Robert J. Diecidue, Vrisha Madhuri, Tae‐Joon Cho, Rolf Morhart, Clive Friedman, Michael Zasloff, Gerard Pals, Jae‐Hyuck Shim, Guangping Gao, Frederick S. Kaplan, Robert J. Pignolo, Dimitra Micha
منشور في 2022Revisão -
12
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 حسب Noriko Miyake, Nicole I. Wolf, Ferdy Kurniawan Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J. Bent, Karen W. Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura‐Ohba, Zoya Kingsbury, Bryan R. Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J. Sinke, Deborah A. Sival, Irene Stolte‐Dijkstra, Andrea Superti‐Furga, Nicole Ulrick, Ryan J. Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A. Neubauer, Cas Simons, Adeline Vanderver
منشور في 2017Artigo -
13
<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures حسب Fleur S. van Dijk, M. Carola Zillikens, Dimitra Micha, Markus Rießland, Carlo Marcelis, C E de Die-Smulders, Janine Milbradt, Anton Franken, Arjan J. Harsevoort, Klaske D. Lichtenbelt, Hans E. Pruijs, M. Estela Rubio‐Gozalbo, Rolf Zwertbroek, Youssef Moutaouakil, Jaqueline Egthuijsen, Matthias Hammerschmidt, Renate Bijman, C.M. Semeins, Astrid D. Bakker, Vincent Everts, Jenneke Klein‐Nulend, Natalia Campos‐Obando, Albert Hofman, Gerard J. te Meerman, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Alessandra Maugeri, Erik A. Sistermans, Quinten Waisfisz, Hanne Meijers‐Heijboer, Brunhilde Wirth, Marleen Simon, Gerard Pals
منشور في 2013Artigo -
14
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop حسب Ruben D. de Ruiter, Bernard J. Smilde, Gerard Pals, Nathalie Bravenboer, Petra Knaus, Ton Schoenmaker, Esmée Botman, Gonzalo Sánchez‐Duffhues, Maurizio Pacifici, Robert J. Pignolo, Eileen M. Shore, Marjolein van Egmond, Hans Van Oosterwyck, Frederick S. Kaplan, Edward C. Hsiao, Paul B. Yu, Renata Bocciardi, Carmen L. De Cunto, Patricia Delai, Teun J. de Vries, Susanne Hilderbrandt, Richard T. Jaspers, Richard Keen, Peter Koolwijk, Rolf Morhart, J.C. Netelenbos, Thomas Rustemeyer, Christiaan Scott, Clemens Stockklausner, Peter ten Dijke, James T Triffit, Francesc Ventura, Roberto Ravazzolo, Dimitra Micha, Elisabeth M. W. Eekhoff
منشور في 2021Revisão -
15
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2 حسب 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
منشور في 2020Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Medicine
Genetics
Internal medicine
Anatomy
Disease
Pathology
Bioinformatics
Osteogenesis imperfecta
Phenotype
Surgery
Bronchiectasis
Lung
Mutation
Primary ciliary dyskinesia
Aneurysm
Biochemistry
Cancer research
Cardiology
Cell biology
Chemistry
Cilium
Downregulation and upregulation
Dynein
Exome sequencing
Fibrodysplasia ossificans progressiva
Heterotopic ossification
Microtubule
Abdominal aortic aneurysm