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Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus. [electronic resource] by
- Dafinger, Claudia
- Rinschen, Markus M
- Borgal, Lori
- Ehrenberg, Carolin
- Basten, Sander G
- Franke, Mareike
- Höhne, Martin
- Rauh, Manfred
- Göbel, Heike
- Bloch, Wilhelm
- Wunderlich, F Thomas
- Peters, Dorien J M
- Tasche, Dirk
- Mishra, Tripti
- Habbig, Sandra
- Dötsch, Jörg
- Müller, Roman-Ulrich
- Brüning, Jens C
- Persigehl, Thorsten
- Giles, Rachel H
- Benzing, Thomas
- Schermer, Bernhard
- Liebau, Max C
Producer: 20190328
In:
Experimental & molecular medicine vol. 50
Availability: No items available.
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Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. [electronic resource] by
- Zhang, Wenjuan
- Taylor, S Paige
- Ennis, Hayley A
- Forlenza, Kimberly N
- Duran, Ivan
- Li, Bing
- Sanchez, Jorge A Ortiz
- Nevarez, Lisette
- Nickerson, Deborah A
- Bamshad, Michael
- Lachman, Ralph S
- Krakow, Deborah
- Cohn, Daniel H
Producer: 20180717
In:
Human mutation vol. 39
Availability: No items available.
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127.
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Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. [electronic resource] by
- Peña-Padilla, C
- Marshall, C R
- Walker, S
- Scherer, S W
- Tavares-Macías, G
- Razo-Jiménez, G
- Bobadilla-Morales, L
- Acosta-Fernández, E
- Corona-Rivera, A
- Mendoza-Londono, R
- Corona-Rivera, J R
Producer: 20170630
In:
Clinical genetics vol. 91
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A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling. [electronic resource] by
- 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
Producer: 20200904
In:
Cell reports vol. 28
Availability: No items available.
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A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. [electronic resource] by
- Breslow, David K
- Hoogendoorn, Sascha
- Kopp, Adam R
- Morgens, David W
- Vu, Brandon K
- Kennedy, Margaret C
- Han, Kyuho
- Li, Amy
- Hess, Gaelen T
- Bassik, Michael C
- Chen, James K
- Nachury, Maxence V
Producer: 20190510
In:
Nature genetics vol. 50
Availability: No items available.
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