检索结果 - Ruxandra Bachmann‐Gagescu

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  1. 1
    The photoreceptor cilium and its diseases

    The photoreceptor cilium and its diseases 由 Ruxandra Bachmann‐Gagescu, Stephan C. F. Neuhauss

    出版 2019
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  2. 2
    <i>vhnf1</i>integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish

    <i>vhnf1</i>integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish 由 Rafael E. Hernandez, Holly A. Rikhof, Ruxandra Bachmann‐Gagescu, Cecilia B. Moens

    出版 2004
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  3. 3
    Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort

    Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort 由 Jordi Maggi, Samuel Koller, Silke Feil, Ruxandra Bachmann‐Gagescu, Christina Gerth‐Kahlert, Wolfgang Berger

    出版 2024
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  4. 4
    The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

    The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking 由 Ruxandra Bachmann‐Gagescu, Ian G. Phelps, George Stearns, Brian A. Link, Susan E. Brockerhoff, Cecilia B. Moens, Dan Doherty

    出版 2011
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  5. 5
    Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition

    Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition 由 Markus Masek, Christelle Etard, C. Hofmann, Andreas J. Hülsmeier, Jingjing Zang, Masanari Takamiya, Matthias Gesemann, Stephan C. F. Neuhauss, Thorsten Hornemann, Uwe Strähle, Ruxandra Bachmann‐Gagescu

    出版 2022
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  6. 6
    Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols

    Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols 由 Walther Haenseler, Melanie Eschment, Bronwyn A. Evans, Marta Brasili, Joana Figueiro‐Silva, Fee Roethlisberger, Affef Abidi, David Jackson, Martín Müller, Sally A. Cowley, Ruxandra Bachmann‐Gagescu

    出版 2025
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  7. 7
    <i>KIAA0586</i>is Mutated in Joubert Syndrome

    <i>KIAA0586</i>is Mutated in Joubert Syndrome 由 Ruxandra Bachmann‐Gagescu, Ian G. Phelps, Jennifer C. Dempsey, Vivek A. Sharma, Gisele E. Ishak, Evan A. Boyle, Meredith Wilson, Charles Marques Lourenço, Mutluay Arslan, Jay Shendure, Dan Doherty

    出版 2015
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  8. 8
    Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

    Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes 由 Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann‐Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch

    出版 2019
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  9. 9
    Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium

    Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium 由 Avishag Mytlis, Vineet Kumar, Tao Qiu, Rachael Deis, Neta Hart, Karine Levy, Markus Masek, Amal Shawahny, Adam Ahmad, Hagai Eitan, Farouq Nather, Shai Adar-Levor, Ramon Y. Birnbaum, Natalie Elia, Ruxandra Bachmann‐Gagescu, Sudipto Roy, Yaniv M. Elkouby

    出版 2022
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  10. 10
    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity 由 Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan, Gwen M. Glew, Anne Hing, Stephanie E Wallace, Patricia I. Bader, Aline I. Hamati, Pamela J. Reitnauer, Rosemarie Smith, David W. Stockton, Hiltrud Muhle, Ingo Helbig, Evan E. Eichler, Blake C. Ballif, Jill A. Rosenfeld, Karen D. Tsuchiya

    出版 2010
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  11. 11
    Pathogenic <i>SCN2A</i> variants cause early-stage dysfunction in patient-derived neurons

    Pathogenic <i>SCN2A</i> variants cause early-stage dysfunction in patient-derived neurons 由 Reza Asadollahi, Igor Delvendahl, Roman Muff, Ge Tan, Daymé González Rodríguez, Serap Turan, Marco Russo, Beatrice Oneda, Pascal Joset, Paranchai Boonsawat, Rahim Masood, Martina Mocera, Ivan Ivanovski, Alessandra Baumer, Ruxandra Bachmann‐Gagescu, Ralph Schlapbach, Hubert Rehrauer, Katharina Steindl, Anaïs Begemann, André Reis, Jürgen Winkler, Beate Winner, Martin Müller, Anita Rauch

    出版 2023
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  12. 12
    The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

    The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking 由 Ruxandra Bachmann‐Gagescu, Margo Dona, Lisette Hetterschijt, E.L.G.M. Tonnaer, Theo Peters, Erik de Vrieze, Dorus A. Mans, Sylvia E. C. van Beersum, Ian G. Phelps, Heleen H. Arts, Jan E.E. Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B. Moens, Stephan C. F. Neuhauss, Hannie Kremer, Erwin van Wijk

    出版 2015
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  13. 13
    Healthcare recommendations for Joubert syndrome

    Healthcare recommendations for Joubert syndrome 由 Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D’Arrigo, Ian Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y. Kroes, Stephen H. Mack, Sara Nuovo, Melissa A. Parisi, Joseph Snow, Angela C. Summers, Jordan M. Symons, Wadih M. Zein, Eugen Boltshauser, John A. Sayer, Meral Gunay‐Aygun, Enza Maria Valente, Dan Doherty

    出版 2019
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  14. 14
    Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

    Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish 由 Julie C. Van De Weghe, Tamara D. S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han Hank Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, Michael J. Bamshad, Deborah A. Nickerson, Stephan C. F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann‐Gagescu, Dan Doherty

    出版 2017
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  15. 15
    Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

    Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity 由 Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps, Brian J. O’Roak, Dana Knutzen, Tessa Rue, Gisele E. Ishak, Christine R. Isabella, Nicholas T. Gorden, Jonathan Adkins, E A Boyle, Nathan Lacy, Diana R. O’Day, Abdulrahman Alswaid, Radha Ramadevi A, Lokesh Lingappa, Charles Marques Lourenço, Loreto Martorell, Ángeles García‐Cazorla, Hamìt Özyürek, Göknur Haliloğlu, Beyhan Tüysüz, Meral Topçu, P. F. Chance, Melissa A. Parisi, Ian Glass, Jay Shendure, Dan Doherty

    出版 2015
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  16. 16
    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy 由 Karina Tuz, Ruxandra Bachmann‐Gagescu, Diana R. O’Day, Kiet Hua, Christine R. Isabella, Ian G. Phelps, Allan E. Stolarski, Brian J. O’Roak, Jennifer C. Dempsey, Charles Marques Lourenço, Abdulrahman Alswaid, Carsten G. Bönnemann, Līvija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J. Leventer, Meral Topçu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E. Ishak, Ian Glass, Jay Shendure, Stephan C. F. Neuhauss, Chad R. Haldeman‐Englert, Dan Doherty, Russell J. Ferland

    出版 2013
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  17. 17
    Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

    Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly 由 Paranchai Boonsawat, Pascal Joset, Katharina Steindl, Beatrice Oneda, Laura Gogoll, Silvia Azzarello‐Burri, Frenny Sheth, Chaitanya Datar, Ishwar C. Verma, Ratna Dua Puri, Marcella Zollino, Ruxandra Bachmann‐Gagescu, Dunja Niedrist, Michael Papik, Joana Figueiro‐Silva, Rahim Masood, Markus Zweier, Dennis Kraemer, Sharyn A. Lincoln, Lance H. Rodan, Sandrine Passemard, Séverine Drunat, Alain Verloès, Anselm H. C. Horn, Heinrich Sticht, Robert Steinfeld, Barbara Plecko, Beatrice Latal, Oskar G. Jenni, Reza Asadollahi, Anita Rauch

    出版 2019
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  18. 18
    Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

    Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome 由 Brooke Latour, Julie C. Van De Weghe, Tamara D. S. Rusterholz, Stef J.F. Letteboer, Arianna Gómez, Ranad Shaheen, Matthias Gesemann, Arezou Karamzade, Mostafa Asadollahi, Miguel Barroso‐Gil, Manali Chitre, Megan E. Grout, Jeroen van Reeuwijk, Sylvia E. C. van Beersum, Caitlin V. Miller, Jennifer C. Dempsey, Heba Morsy, Michael J. Bamshad, Deborah A. Nickerson, Stephan C. F. Neuhauss, Karsten Boldt, Marius Ueffing, Mohammad Keramatipour, John A. Sayer, Fowzan S. Alkuraya, Ruxandra Bachmann‐Gagescu, Ronald Roepman, Dan Doherty

    出版 2020
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