Výsledky vyhledávání - Miriam Schmidts

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  1. 1
    Clinical genetics and pathobiology of ciliary chondrodysplasias

    Clinical genetics and pathobiology of ciliary chondrodysplasias Autor Miriam Schmidts

    Vydáno 2015
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  2. 2
    A homozygous human <i>WNT11</i> variant is associated with laterality, heart and renal defects

    A homozygous human <i>WNT11</i> variant is associated with laterality, heart and renal defects Autor Henrike Berns, Dominik Weber, Maximilian Haas, Zeineb Bakey, Magdalena Maria Brislinger-Engelhardt, Miriam Schmidts, Peter Walentek

    Vydáno 2025
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  3. 3
    Development of an Automated Imaging Pipeline for the Analysis of the Zebrafish Larval Kidney

    Development of an Automated Imaging Pipeline for the Analysis of the Zebrafish Larval Kidney Autor Jens H. Westhoff, Stefan Giselbrecht, Miriam Schmidts, Sebastian Schindler, Philip L. Beales, Burkhard Tönshoff, Urban Liebel, Jochen Gehrig

    Vydáno 2013
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  4. 4
    The Carboxyl Terminus of Neph Family Members Binds to the PDZ Domain Protein Zonula Occludens-1

    The Carboxyl Terminus of Neph Family Members Binds to the PDZ Domain Protein Zonula Occludens-1 Autor Tobias B. Huber, Miriam Schmidts, Peter Gerke, Bernhard Schermer, Anne Zahn, Björn Hartleben, Lorenz Sellin, Gerd Walz, Thomas Benzing

    Vydáno 2003
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  5. 5
    Role of the Polarity Protein Scribble for Podocyte Differentiation and Maintenance

    Role of the Polarity Protein Scribble for Podocyte Differentiation and Maintenance Autor Björn Hartleben, Eugen Widmeier, Nicola Wanner, Miriam Schmidts, Sung Tae Kim, Lisa Schneider, Britta Mayer, Dontscho Kerjaschki, Jeffrey H. Miner, Gerd Walz, Tobias B. Huber

    Vydáno 2012
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  6. 6
    Nephrin and CD2AP Associate with Phosphoinositide 3-OH Kinase and Stimulate AKT-Dependent Signaling

    Nephrin and CD2AP Associate with Phosphoinositide 3-OH Kinase and Stimulate AKT-Dependent Signaling Autor Tobias B. Huber, Bjürn Hartleben, Jeong Hun Kim, Miriam Schmidts, Bernhard Schermer, Alexander Keil, Lotti Egger, Rachel L. Lecha, Christoph Borner, Hermann Pavenstädt, Andréy S. Shaw, Gerd Walz, Thomas Benzing

    Vydáno 2003
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  7. 7
    A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

    A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies Autor Ranad Shaheen, Miriam Schmidts, Eissa Faqeih, Amal Hashem, Ekkehart Lausch, Isabel Holder, Andrea Superti‐Furga, Hannah M. Mitchison, Agaadir Almoisheer, Rana Alamro, Tarfa Alshiddi, Fatma Alzahrani, Philip L. Beales, Fowzan S. Alkuraya

    Vydáno 2014
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  8. 8
    Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia

    Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia Autor Jelle Vriend, Janny G.P. Peters, Tom T.G. Nieskens, Renata Škovroňová, Nina Blaimschein, Miriam Schmidts, Ronald Roepman, Tom J.J. Schirris, Frans G. M. Rüssel, Rosalinde Masereeuw, Martijn J. Wilmer

    Vydáno 2019
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  9. 9
    Emerging principles of primary cilia dynamics in controlling tissue organization and function

    Emerging principles of primary cilia dynamics in controlling tissue organization and function Autor Jay Gopalakrishnan, Kerstin Feistel, Benjamin M. Friedrich, Anne Grapin‐Botton, Nathalie Jurisch‐Yaksi, Elvira Mass, David U. Mick, Roman‐Ulrich Müller, Helen May‐Simera, Bernhard Schermer, Miriam Schmidts, Peter Walentek, Dagmar Wachten

    Vydáno 2023
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    Revisão
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  10. 10
    Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

    Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects Autor Niki T. Loges, Heike Olbrich, Anita Becker-Heck, Karsten Häffner, Angelina Heer, Christina Reinhard, Miriam Schmidts, Andreas Kispert, Maimoona A. Zariwala, Margaret W. Leigh, Michael R. Knowles, Hanswalter Zentgraf, Horst Seithe, Gudrun Nürnberg, Peter Nürnberg, Richard Reinhardt, Heymut Omran

    Vydáno 2009
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  11. 11
    Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

    Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia Autor Hannah M. Mitchison, Miriam Schmidts, Niki T. Loges, Judy Freshour, Athina Dritsoula, Robert A. Hirst, Christopher O’Callaghan, Hannah Blau, Maha Al Dabbagh, Heike Olbrich, Philip L. Beales, Toshiki Yagi, Huda Mussaffi, Eddie M.K. Chung, Heymut Omran, David R. Mitchell

    Vydáno 2012
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  12. 12
    Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

    Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60 Autor Aideen M. McInerney‐Leo, Miriam Schmidts, Claudio R. Cortés, Paul Leo, Blanca Gener, Andrew D. Courtney, Brooke Gardiner, Jessica Harris, Yeping Lu, Mhairi Marshall, Peter Scambler, Philip L. Beales, Matthew A. Brown, Andreas Zankl, Hannah M. Mitchison, Emma L. Duncan, Carol Wicking

    Vydáno 2013
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  13. 13
    Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

    Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia Autor 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

    Vydáno 2012
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  14. 14
    Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

    Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects Autor 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

    Vydáno 2016
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  15. 15
    Combined exome and whole-genome sequencing identifies mutations in<i>ARMC4</i>as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

    Combined exome and whole-genome sequencing identifies mutations in<i>ARMC4</i>as a cause of primary ciliary dyskinesia with defects in the outer dynein arm Autor Alexandros Onoufriadis, Amelia Shoemark, Mustafa M. Munye, Chela James, Miriam Schmidts, Mitali Patel, Elisabeth Rosser, Chiara Bacchelli, Philip L. Beales, Peter Scambler, Stephen L. Hart, Jeannette E Danke-Roelse, John J. Sloper, Sarah Hull, Claire Hogg, Richard D. Emes, Gerard Pals, Anthony T. Moore, Eddie M.K. Chung, Hannah M. Mitchison

    Vydáno 2013
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  16. 16
    Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

    Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry Autor Heike Olbrich, Miriam Schmidts, Claudius Werner, Alexandros Onoufriadis, Niki T. Loges, Johanna Raidt, Nóra Fanni Bánki, Amelia Shoemark, Thomas Burgoyne, Saeed Al Turki, Matthew E. Hurles, Gabriele Köhler, Josef Schroeder, Gudrun Nürnberg, Peter Nürnberg, Eddie M.K. Chung, Richard Reinhardt, June K. Marthin, Kim G. Nielsen, Hannah M. Mitchison, Heymut Omran

    Vydáno 2012
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  17. 17
    Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

    Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms Autor Inga M. Höben, Rim Hjeij, Heike Olbrich, Gerard W. Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G. Nielsen, Maria C. Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T. Loges, Heymut Omran

    Vydáno 2018
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  18. 18
    Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

    Hypomorphic mutations of TRIP11 cause odontochondrodysplasia Autor Anika Wehrle, Tomasz M. Witkos, Sheila Unger, Judith C. Schneider, John A. Follit, Johannes C. Hermann, Tim J. M. Welting, Virginia Fano, Marja Hietala, Nithiwat Vatanavicharn, Katharina Schoner, Jürgen W. Spranger, Miriam Schmidts, Bernhard Zabel, Gregory J. Pazour, Agnès Bloch‐Zupan, Gen Nishimura, Andrea Superti‐Furga, Martin Lowe, Ekkehart Lausch

    Vydáno 2019
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  19. 19
    Mutations of<i>DNAH11</i>in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

    Mutations of<i>DNAH11</i>in patients with primary ciliary dyskinesia with normal ciliary ultrastructure Autor Michael R. Knowles, Margaret W. Leigh, Johnny L. Carson, Stephanie D. Davis, Sharon Dell, Thomas W. Ferkol, Kenneth N. Olivier, Scott D. Sagel, Margaret Rosenfeld, Kimberlie A. Burns, Susan L. Minnix, Michael C. Armstrong, Adriana Lori, Milan J. Hazucha, Niki T. Loges, Heike Olbrich, Anita Becker-Heck, Miriam Schmidts, Claudius Werner, Heymut Omran, Maimoona A. Zariwala

    Vydáno 2011
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  20. 20
    Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

    Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects Autor Alexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, Mitali Patel, Gina Jimenez, Hui Liu, Biju Thomas, Mellisa Dixon, Robert A. Hirst, A Rutman, Thomas Burgoyne, Christopher Williams, Juliet Scully, F Bolard, Jean‐Jacques Lafitte, Philip L. Beales, Claire Hogg, Pinfen Yang, Eddie M.K. Chung, Richard D. Emes, Christopher O’Callaghan, Patrice Bouvagnet, Hannah M. Mitchison

    Vydáno 2014
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