학술논문
'학술논문'
에서 검색결과 10건 | 목록
1~10
Academic Journal
Otto, Edgar A.; Hurd, Toby W; Airik, Rannar; Chaki, Moumita; Zhou, Weibin; Stoetzel, Corinne; Patil, Suresh B; Levy, Shawn; Ghosh, Amiya K; Murga-Zamalloa, Carlos A; van Reeuwijk, Jeroen; Letteboer, Stef J F; Sang, Liyun; Giles, Rachel H; Liu, Qin; Coene, Karlien L M; Estrada-Cuzcano, Alejandro; Collin, Rob W J; McLaughlin, Heather M; Held, Susanne
Academic Journal
Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webster, Andrew R; Haer-Wigman, Lonneke
Journal of Medical Genetics. Sep 01, 2017 54(9):624-632
Periodical
Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webster, Andrew R; Haer-Wigman, Lonneke
Journal of Medical Genetics (JMG); 2017, Vol. 54 Issue: 9 p624-632, 9p
Electronic Resource
Latour, Brooke L; Van De Weghe, Julie C; https://orcid.org/0000-0002-4492-6089; Rusterholz, Tamara D S; Letteboer, Stef J F; Gomez, Arianna; https://orcid.org/0000-0002-9334-4130; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; https://orcid.org/0000-0001-8209-8504; Asadollahi, Mostafa; https://orcid.org/0000-0003-3728-189X; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E; https://orcid.org/0000-0001-7704-2100; van Reeuwijk, Jeroen; van Beersum, Sylvia E C; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; https://orcid.org/0000-0002-9047-0959; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; https://orcid.org/0000-0002-9615-480X; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A; https://orcid.org/0000-0003-1881-3782; Alkuraya, Fowzan S; https://orcid.org/0000-0003-4158-341X; Bachmann-Gagescu, Ruxandra; https://orcid.org/0000-0002-3571-5271; Roepman, Ronald; Doherty, Dan; https://orcid.org/0000-0001-9377-028X
Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara D S; Letteboer, Stef J F ; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia E C; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan (2020). Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Journal of Clinical Investigation, 130(8):4423-4439.
Electronic Resource
Electronic Resource
Sub Cell Biology; Celbiologie; Frikstad, Kari-Anne M; Molinari, Elisa; Thoresen, Marianne; Ramsbottom, Simon A; Hughes, Frances; Letteboer, Stef J F; Gilani, Sania; Schink, Kay O; Stokke, Trond; Geimer, Stefan; Pedersen, Lotte B; Giles, Rachel H; Akhmanova, Anna; Roepman, Ronald; Sayer, John A; Patzke, Sebastian
Electronic Resource
Regenerative Medicine and Stem Cells; Nefro Vasculaire Geneeskunde; Circulatory Health; van Dam, Teunis J P; Kennedy, Julie; van der Lee, Robin; de Vrieze, Erik; Wunderlich, Kirsten A; Rix, Suzanne; Dougherty, Gerard W; Lambacher, Nils J; Li, Chunmei; Jensen, Victor L; Leroux, Michel R; Hjeij, Rim; Horn, Nicola; Texier, Yves; Wissinger, Yasmin; van Reeuwijk, Jeroen; Wheway, Gabrielle; Knapp, Barbara; Scheel, Jan F; Franco, Brunella; Mans, Dorus A; van Wijk, Erwin; Képès, François; Slaats, Gisela G; Toedt, Grischa; Kremer, Hannie; Omran, Heymut; Szymanska, Katarzyna; Koutroumpas, Konstantinos; Ueffing, Marius; Nguyen, Thanh-Minh T; Letteboer, Stef J F; Oud, Machteld M; van Beersum, Sylvia E C; Schmidts, Miriam; Beales, Philip L; Lu, Qianhao; Giles, Rachel H; Szklarczyk, Radek; Russell, Robert B; Gibson, Toby J; Johnson, Colin A; Blacque, Oliver E; Wolfrum, Uwe; Boldt, Karsten; Roepman, Ronald; Hernandez-Hernandez, Victor; Huynen, Martijn A
Electronic Resource
Latour, Brooke L; Van De Weghe, Julie C; https://orcid.org/0000-0002-4492-6089; Rusterholz, Tamara D S; Letteboer, Stef J F; Gomez, Arianna; https://orcid.org/0000-0002-9334-4130; Shaheen, Ranad; Gesemann, Matthias; https://orcid.org/0000-0001-7635-1235; Grout, Megan E; https://orcid.org/0000-0001-7704-2100; van Reeuwijk, Jeroen; https://orcid.org/0000-0002-0658-4399; van Beersum, Sylvia E C; Miller, Caitlin V; Dempsey, Jennifer C; https://orcid.org/0000-0002-5937-5830; Morsy, Heba; https://orcid.org/0000-0002-9047-0959; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; https://orcid.org/0000-0002-9615-480X; Boldt, Karsten; Ueffing, Marius; Alkuraya, Fowzan S; https://orcid.org/0000-0003-4158-341X; Bachmann-Gagescu, Ruxandra; https://orcid.org/0000-0002-3571-5271; Roepman, Ronald; Doherty, Dan; https://orcid.org/0000-0001-9377-028X
Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara D S; Letteboer, Stef J F ; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia E C; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Boldt, Karsten; Ueffing, Marius; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan (2019). ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability. bioRxiv 817213, Cold Spring Harbor Laboratory.
Electronic Resource
Wheway, Gabrielle; Schmidts, Miriam; Mans, Dorus A; Szymanska, Katarzyna; Nguyen, Thanh-Minh T; Racher, Hilary; Phelps, Ian G; Toedt, Grischa; Kennedy, Julie; Wunderlich, Kirsten A; Sorusch, Nasrin; Abdelhamed, Zakia A; Natarajan, Subaashini; Herridge, Warren; van Reeuwijk, Jeroen; Horn, Nicola; Boldt, Karsten; Parry, David A; Letteboer, Stef J F; Roosing, Susanne; Adams, Matthew; Bell, Sandra M; Bond, Jacquelyn; Higgins, Julie; Morrison, Ewan E; Tomlinson, Darren C; Slaats, Gisela G; van Dam, Teunis J P; Huang, Lijia; Kessler, Kristin; Giessl, Andreas; Logan, Clare V; Boyle, Evan A; Shendure, Jay; Anazi, Shamsa; Aldahmesh, Mohammed; Al Hazzaa, Selwa; Hegele, Robert A; Ober, Carole; Frosk, Patrick; Mhanni, Aizeddin A; Chodirker, Bernard N; Chudley, Albert E; Lamont, Ryan; Bernier, Francois P; Beaulieu, Chandree L; Gordon, Paul; Pon, Richard T; Donahue, Clem; Giles, Rachel H; UK10K Consortium
Electronic Resource
Regenerative Medicine and Stem Cells; Nefro Vasculaire Geneeskunde; Circulatory Health; Wheway, Gabrielle; Schmidts, Miriam; Mans, Dorus A; Szymanska, Katarzyna; Nguyen, Thanh-Minh T; Racher, Hilary; Phelps, Ian G; Toedt, Grischa; Kennedy, Julie; Wunderlich, Kirsten A; Sorusch, Nasrin; Abdelhamed, Zakia A; Natarajan, Subaashini; Herridge, Warren; van Reeuwijk, Jeroen; Horn, Nicola; Boldt, Karsten; Parry, David A; Letteboer, Stef J F; Roosing, Susanne; Adams, Matthew; Bell, Sandra M; Bond, Jacquelyn; Higgins, Julie; Morrison, Ewan E; Tomlinson, Darren C; Slaats, Gisela G; van Dam, Teunis J P; Huang, Lijia; Kessler, Kristin; Giessl, Andreas; Logan, Clare V; Boyle, Evan A; Shendure, Jay; Anazi, Shamsa; Aldahmesh, Mohammed; Al Hazzaa, Selwa; Hegele, Robert A; Ober, Carole; Frosk, Patrick; Mhanni, Aizeddin A; Chodirker, Bernard N; Chudley, Albert E; Lamont, Ryan; Bernier, Francois P; Beaulieu, Chandree L; Gordon, Paul; Pon, Richard T; Donahue, Clem; Giles, Rachel H; UK10K Consortium
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[AR] Letteboer, Stef J F
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