Resultados de procura - Lisette Hetterschijt

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  1. 1
    FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

    FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies por Silvio Alessandro Di Gioia, Stef J.F. Letteboer, Corinne Kostic, Dikla Bandah‐Rozenfeld, Lisette Hetterschijt, Dror Sharon, Yvan Arsenijévic, Ronald Roepman, Carlo Rivolta

    Publicado 2012
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  2. 2
    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation por Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García‐García, Mireille Claustres, Lisette Hetterschijt, Theo Peters, Bas P. Hartel, Ronald J. E. Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob W.J. Collin, Hannie Kremer, Anne‐Françoise Roux, Erwin van Wijk

    Publicado 2016
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  3. 3
    Usherin defects lead to early-onset retinal dysfunction in zebrafish

    Usherin defects lead to early-onset retinal dysfunction in zebrafish por Margo Dona, Ralph Slijkerman, Kimberly Lerner, Sanne Broekman, Jeremy Wegner, Taylor Howat, Theo Peters, Lisette Hetterschijt, Nanda Boon, Erik de Vrieze, Nasrin Sorusch, Uwe Wolfrum, Hannie Kremer, Stephan C. F. Neuhauss, Jingjing Zang, Maarten Kamermans, Monte Westerfield, Jennifer B. Phillips, Erwin van Wijk

    Publicado 2018
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  4. 4
    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 por 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

    Publicado 2015
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  5. 5
    Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

    Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain por Sebiha Cevik, Anna A. W. M. Sanders, Erwin van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I. Kaplan, Sylvia E. C. van Beersum, Ka Man Wu, Stef J.F. Letteboer, Dorus A. Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E. Blacque

    Publicado 2013
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  6. 6
    <i>ZNF408</i> is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

    <i>ZNF408</i> is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature por Rob W.J. Collin, Konstantinos Nikopoulos, Margo Dona, Christian Gilissen, Alexander Hoischen, F. Nienke Boonstra, James A. Poulter, Hiroyuki Kondo, Wolfgang Berger, Carmel Toomes, Tomoko Tahira, Lucas Mohn, Ellen A.W. Blokland, Lisette Hetterschijt, Manir Ali, Johanne M. Groothuismink, Lonneke Duijkers, Chris F. Inglehearn, Lea Sollfrank, Tim M. Strom, Eiichi Uchio, C. E. van Nouhuys, Hannie Kremer, Joris A. Veltman, Erwin van Wijk, Frans P.M. Cremers

    Publicado 2013
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  7. 7
    Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

    Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss por Kemal O. Yariz, Duygu Duman, Celia Zazo Seco, Julia E. Dallman, Mingqian Huang, Theo Peters, Aslı Sırmacı, Na Lü, Margit Schraders, Isaac Skromne, Jaap Oostrik, Oscar Diaz‐Horta, Juan I. Young, Suna Tokgöz-Yılmaz, Özlem Konukseven, Hashem Shahin, Lisette Hetterschijt, Moien Kanaan, Anne M.M. Oonk, Yvonne J. K. Edwards, Huawei Li, Semra Atalay, Susan H. Blanton, Alexandra A. DeSmidt, Xue-Zhong Liu, Ronald J. E. Pennings, Zhongmin Lu, Zheng‐Yi Chen, Hannie Kremer, Mustafa Tekin

    Publicado 2012
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  8. 8
    Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

    Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy por Susanne Roosing, Ideke J.C. Lamers, Erik de Vrieze, L. Ingeborgh van den Born, Stanley Lambertus, Heleen H. Arts, Theo Peters, Carel B. Hoyng, Hannie Kremer, Lisette Hetterschijt, Stef J.F. Letteboer, Erwin van Wijk, Ronald Roepman, Anneke I. den Hollander, Frans P.M. Cremers, Karsten Boldt, Elfride De Baere, Caroline C. W. Klaver, Frauke Coppieters, David A. Koolen, Dorien Lugtenberg, Kornelia Neveling, Jeroen van Reeuwijk, Marius Ueffing, Sylvia E. C. van Beersum, Marijke N. Zonneveld-Vrieling

    Publicado 2014
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  9. 9
    KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

    KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome por Anna A. W. M. Sanders, Erik de Vrieze, Anas M. Alazami, Fatema Alzahrani, Erik B. Malarkey, Nasrin Sorusch, Lars Tebbe, Stefanie Kuhns, Teunis J. P. van Dam, Amal Alhashem, Brahim Tabarki, Qianhao Lu, Nils J. Lambacher, Julie Kennedy, Rachel V. Bowie, Lisette Hetterschijt, Sylvia E. C. van Beersum, Jeroen van Reeuwijk, Karsten Boldt, Hannie Kremer, Robert A. Kesterson, Dorota Monies, Mohamed Abouelhoda, Ronald Roepman, Martijn A. Huynen, Marius Ueffing, Robert B. Russell, Uwe Wolfrum, Bradley K. Yoder, Erwin van Wijk, Fowzan S. Alkuraya, Oliver E. Blacque

    Publicado 2015
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  10. 10
    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms por Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard W. Dougherty, Ideke J.C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Képès, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, Saeed Al-Turki, Carl E. Anderson, Dinu Antony, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, Petr Danecek, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Christopher Joyce, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O’Rahilly, Alexandros Onoufriadis, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Ros Whittall, Kathy Williamson

    Publicado 2016
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