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Essential role of ELOVL4 protein in very long chain fatty acid synthesis and retinal function. [electronic resource] by
- Harkewicz, Richard
- Du, Hongjun
- Tong, Zongzhong
- Alkuraya, Hisham
- Bedell, Matthew
- Sun, Woong
- Wang, Xiaolei
- Hsu, Yuan-Hao
- Esteve-Rudd, Julian
- Hughes, Guy
- Su, Zhiguang
- Zhang, Ming
- Lopes, Vanda S
- Molday, Robert S
- Williams, David S
- Dennis, Edward A
- Zhang, Kang
Producer: 20120920
In:
The Journal of biological chemistry vol. 287
Availability: No items available.
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14.
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Mutations in EMP2 cause childhood-onset nephrotic syndrome. [electronic resource] by
- Gee, Heon Yung
- Ashraf, Shazia
- Wan, Xiaoyang
- Vega-Warner, Virginia
- Esteve-Rudd, Julian
- Lovric, Svjetlana
- Fang, Humphrey
- Hurd, Toby W
- Sadowski, Carolin E
- Allen, Susan J
- Otto, Edgar A
- Korkmaz, Emine
- Washburn, Joseph
- Levy, Shawn
- Williams, David S
- Bakkaloglu, Sevcan A
- Zolotnitskaya, Anna
- Ozaltin, Fatih
- Zhou, Weibin
- Hildebrandt, Friedhelm
Producer: 20140729
In:
American journal of human genetics vol. 94
Availability: No items available.
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15.
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Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. [electronic resource] by
- Eblimit, Aiden
- Nguyen, Thanh-Minh T
- Chen, Yiyun
- Esteve-Rudd, Julian
- Zhong, Hua
- Letteboer, Stef
- Van Reeuwijk, Jeroen
- Simons, David L
- Ding, Qian
- Wu, Ka Man
- Li, Yumei
- Van Beersum, Sylvia
- Moayedi, Yalda
- Xu, Huidan
- Pickard, Patrick
- Wang, Keqing
- Gan, Lin
- Wu, Samuel M
- Williams, David S
- Mardon, Graeme
- Roepman, Ronald
- Chen, Rui
Producer: 20151123
In:
Human molecular genetics vol. 24
Availability: No items available.
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16.
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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. [electronic resource] by
- Ashraf, Shazia
- Gee, Heon Yung
- Woerner, Stephanie
- Xie, Letian X
- Vega-Warner, Virginia
- Lovric, Svjetlana
- Fang, Humphrey
- Song, Xuewen
- Cattran, Daniel C
- Avila-Casado, Carmen
- Paterson, Andrew D
- Nitschké, Patrick
- Bole-Feysot, Christine
- Cochat, Pierre
- Esteve-Rudd, Julian
- Haberberger, Birgit
- Allen, Susan J
- Zhou, Weibin
- Airik, Rannar
- Otto, Edgar A
- Barua, Moumita
- Al-Hamed, Mohamed H
- Kari, Jameela A
- Evans, Jonathan
- Bierzynska, Agnieszka
- Saleem, Moin A
- Böckenhauer, Detlef
- Kleta, Robert
- El Desoky, Sherif
- Hacihamdioglu, Duygu O
- Gok, Faysal
- Washburn, Joseph
- Wiggins, Roger C
- Choi, Murim
- Lifton, Richard P
- Levy, Shawn
- Han, Zhe
- Salviati, Leonardo
- Prokisch, Holger
- Williams, David S
- Pollak, Martin
- Clarke, Catherine F
- Pei, York
- Antignac, Corinne
- Hildebrandt, Friedhelm
Producer: 20140204
In:
The Journal of clinical investigation vol. 123
Availability: No items available.
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17.
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ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. [electronic resource] by
- Zariwala, Maimoona A
- Gee, Heon Yung
- Kurkowiak, Małgorzata
- Al-Mutairi, Dalal A
- Leigh, Margaret W
- Hurd, Toby W
- Hjeij, Rim
- Dell, Sharon D
- Chaki, Moumita
- Dougherty, Gerard W
- Adan, Mohamed
- Spear, Philip C
- Esteve-Rudd, Julian
- Loges, Niki T
- Rosenfeld, Margaret
- Diaz, Katrina A
- Olbrich, Heike
- Wolf, Whitney E
- Sheridan, Eamonn
- Batten, Trevor F C
- Halbritter, Jan
- Porath, Jonathan D
- Kohl, Stefan
- Lovric, Svjetlana
- Hwang, Daw-Yang
- Pittman, Jessica E
- Burns, Kimberlie A
- Ferkol, Thomas W
- Sagel, Scott D
- Olivier, Kenneth N
- Morgan, Lucy C
- Werner, Claudius
- Raidt, Johanna
- Pennekamp, Petra
- Sun, Zhaoxia
- Zhou, Weibin
- Airik, Rannar
- Natarajan, Sivakumar
- Allen, Susan J
- Amirav, Israel
- Wieczorek, Dagmar
- Landwehr, Kerstin
- Nielsen, Kim
- Schwerk, Nicolaus
- Sertic, Jadranka
- Köhler, Gabriele
- Washburn, Joseph
- Levy, Shawn
- Fan, Shuling
- Koerner-Rettberg, Cordula
- Amselem, Serge
- Williams, David S
- Mitchell, Brian J
- Drummond, Iain A
- Otto, Edgar A
- Omran, Heymut
- Knowles, Michael R
- Hildebrandt, Friedhelm
Producer: 20131217
In:
American journal of human genetics vol. 93
Availability: No items available.
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