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Browsing by Author Hurles, Matthew E.
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| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 2016 | Clinical delineation of the PACS1-related syndrome--Report on 19 patients | Schuurs-Hoeijmakers, Janneke H. M.; Landsverk, Megan L.; Foulds, Nicola; Kukolich, Mary K.; Gavrilova, Ralitza H.; Greville-Heygate, Stephanie; Hanson-Kahn, Andrea; Bernstein, Jonathan A.; Glass, Jennifer; Chitayat, David;
Burrow, Thomas A.; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van, der Aa Nathalie; Kooy, Frank; Brown, Kate Tatton; Gadzicki, Dorothea; Kini, Usha; Alvarez, Sara; Fernández-Jaén, Alberto; McGehee, Frank; Selby, Katherine; Tarailo Graovac, Maja
 ; Van, Allen Margot; van, Karnebeek Clara D. M.; Stavropoulos, Dimitri J.; Marshall, Christian R.; Merico, Daniele; Gregor, Anne; Zweier, Christiane; Hopkin, Robert J.; Chu, Yoyo Wing-Yiu; Chung, Brian Hon-Yin; de, Vries Bert B. A.; Devriendt, Koenraad; Hurles, Matthew E.; Brunner, Han G.; | Article | 22M22 |
| 2013 | Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease | Schmidts, Miriam; Frank, Valeska; Eisenberger, Tobias; al, Turki Saeed; Bizet, Albane A.; Antony, Dinu; Rix, Suzanne; Decker, Christian; Bachmann, Nadine; Bald, Martin;
Vinke, Tobias; Toenshoff, Burkhard; Di, Donato Natalia; Neuhann, Theresa; Hartley, Jane L.; Maher, Eamonn R.; Bogdanović, Radovan; Peco‐Antić, Amira; Mache, Christoph; Hurles, Matthew E.; Joksić, Ivana; Guć‐Šćekić, Marija; Rakobradović, Jelena
; Branković-Magić, Mirjana  ; Bolz, Hanno J.; Pazour, Gregory J.; Beales, Philip L.; Scambler, Peter J.; Saunier, Sophie; Mitchison, Hannah M.; Bergmann, Carsten; | Article | 21aM21a |