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An essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy. [electronic resource] by
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- Wei, Xinran
- Shukla, Dhananjay
- Rajendran, Anand
- Tawansy, Khaled
- Bedell, Matthew
- Lim, Sharon
- Shaw, Peter X
- He, Xi
- Yang, Zhenglin
Producer: 20110609
In:
The Journal of biological chemistry vol. 286
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Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. [electronic resource] by
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- Nightingale, Mathew
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- Parkash, Sandhya
- Hathaway, Julie
- Thomas, Aidan
- Ells, Anna
- Traboulsi, Elias I
- Héon, Elise
- Roy, Mélanie
- Shalev, Stavit
- Fernandez, Conrad V
- MacGillivray, Christine
- Wallace, Karin
- Fahiminiya, Somayyeh
- Majewski, Jacek
- McMaster, Christopher R
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Producer: 20150304
In:
JAMA ophthalmology vol. 132
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Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy. [electronic resource] by
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- Yu, Young Suk
- Park, Sung Wook
- Kim, Jeong Hun
- Kim, Hyun Kyung
- Cho, Sung Im
- Park, Hyunwoong
- Lee, Seung Jun
- Seong, Moon-Woo
- Park, Sung Sup
- Kim, Ji Yeon
Producer: 20151027
In:
Investigative ophthalmology & visual science vol. 56
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Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier. [electronic resource] by
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- Ziccardi, Lucia
- Iarossi, Giancarlo
- Gusson, Elena
- D'Agruma, Leonardo
- Marchini, Giorgio
- Buzzonetti, Luca
- Nicoletti, Annalisa
- Benedetti, Sabrina
- Bertelli, Matteo
Producer: 20171201
In:
Ophthalmic genetics vol. 38
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Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. [electronic resource] by
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- Liu, Jorn-Hon
- Ko, Yu-Chieh
- Wang, Chi-Tang
- Chung, Yu-Chien
- Chu, Kuo-Chang
- Liu, Tze-Tze
- Chao, Hsiao-Ming
- Jiang, Yun-Jin
- Chen, Shih-Jen
- Chung, Ming-Yi
Producer: 20161213
In:
Human molecular genetics vol. 25
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Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. [electronic resource] by
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- Zhu, Xiong
- Jiang, Zhilin
- Ma, Shi
- Li, Jing
- Zhang, Qi
- Zhou, Yu
- Xu, Yu
- Tai, Zhengfu
- Zhang, Lin
- Huang, Lulin
- Yang, Zhenglin
- Zhao, Peiquan
- Zhu, Xianjun
Producer: 20160928
In:
Scientific reports vol. 5
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Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. [electronic resource] by
- Hull, Sarah
- Arno, Gavin
- Ostergaard, Pia
- Pontikos, Nikolas
- Robson, Anthony G
- Webster, Andrew R
- Hogg, Chris R
- Wright, Genevieve A
- Henderson, Robert H H
- Martin, Carol-Anne
- Jackson, Andrew P
- Mansour, Sahar
- Moore, Anthony T
- Michaelides, Michel
Producer: 20200323
In:
American journal of ophthalmology vol. 207
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Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. [electronic resource] by
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- Vote, B
- Buttery, R G
- Toomes, C
- Metlapally, R
- Li, Y J
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- Malecaze, F
- Calvas, P
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- Young, T L
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In:
Molecular vision vol. 17
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