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C

Claudio R. Cortés

University of London
H指数:12
被引数:1,025

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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport (vol 6, 7074, 2015)
NATURE COMMUNICATIONS
IF15.7
2016-03-290
OAAI
Schmidts, Miriam; Hou, Yuqing; Cortes, Claudio R.; Mans, Dorus A.; Huber, Celine; Boldt, Karsten; Patel, Mitali; van Reeuwijk, Jeroen; Plaza, Jean-Marc; van Beersum, Sylvia E. C.; Yap, Zhi Min; Letteboer, Stef J. F.; Taylor, S. Paige; Herridge, Warren; Johnson, Colin A.; Scambler, Peter J.; Ueffing, Marius; Kayserili, Hulya; Krakow, Deborah; King, Stephen M.; Beales, Philip L.; Al-Gazali, Lihadh; Wicking, Carol; Cormier-Daire, Valerie; Roepman, Ronald; Mitchison, Hannah M.; Witman, George B.
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
NATURE COMMUNICATIONS
IF15.7
2015-06-0548
OAAI
Schmidts, Miriam; Hou, Yuqing; Cortes, Claudio R.; Mans, Dorus A.; Huber, Celine; Boldt, Karsten; Patel, Mitali; van Reeuwijk, Jeroen; Plaza, Jean-Marc; van Beersum, Sylvia E. C.; Yap, Zhi Min; Letteboer, Stef J. F.; Taylor, S. Paige; Herridge, Warren; Johnson, Colin A.; Scambler, Peter J.; Ueffing, Marius; Kayserili, Hulya; Krakow, Deborah; King, Stephen M.; Beales, Philip L.; Al-Gazali, Lihadh; Wicking, Carol; Cormier-Daire, Valerie; Roepman, Ronald; Mitchison, Hannah M.; Witman, George B.
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2013-11-0191
OAAI
Schmidts, Miriam; Vodopiutz, Julia; Christou-Savina, Sonia; Cortes, Claudio R.; McInerney-Leo, Aideen M.; Emes, Richard D.; Arts, Heleen H.; Tuysuz, Beyhan; D'Silva, Jason; Leo, Paul J.; Giles, Tom C.; Oud, Machteld M.; Harris, Jessica A.; Koopmans, Marije; Marshall, Mhairi; Elcioglu, Nursel; Kuechler, Alma; Bockenhauer, Detlef; Moore, Anthony T.; Wilson, Louise C.; Janecke, Andreas R.; Hurles, Matthew E.; Emmet, Warren; Gardiner, Brooke; Streubel, Berthold; Dopita, Belinda; Zankl, Andreas; Kayserili, Hulya; Scambler, Peter J.; Brown, Matthew A.; Beales, Philip L.; Wicking, Carol; Duncan, Emma L.; Mitchison, Hannah M.

研究方向

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C
Carol Wicking
H 指数:47论文数:129被引数:8,651
P
Peter Scambler
H 指数:94论文数:552被引数:3.4万
M
Miriam Schmidts
H 指数:49论文数:136被引数:9,537
H
Hannah M. Mitchison
H 指数:67论文数:265被引数:1.4万
E
Emma L. Duncan
H 指数:56论文数:345被引数:1.6万
H
Hülya Kayserili
H 指数:71论文数:351被引数:2.0万
A
Andreas Zankl
H 指数:36论文数:133被引数:5,704
A
Aideen McInerney‐Leo
H 指数:34论文数:173被引数:4,159
M
Matthew A. Brown
H 指数:144论文数:1,417被引数:14.0万
P
Paul Leo
H 指数:46论文数:233被引数:8,822