еНаука - преглед
Преглед према Аутор van, Karnebeek Clara D. M.
Приказ резултата 1 до 3 од 3
| Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
|---|---|---|---|---|
| 2015 | Altered PLP1 splicing causes hypomyelination of early myelinating structures | Kevelam, Sietske H.; Taube, Jennifer R.; van, Spaendonk Rosalina M. L.; Bertini, Enrico; Sperle, Karen; Tarnopolsky, Mark; Tonduti, Davide; Valente, Enza Maria; Travaglini, Lorena; Sistermans, Erik A.;
Bernard, Geneviève; Catsman-Berrevoets, Coriene E.; van, Karnebeek Clara D. M.; Østergaard, John R.; Friederich, Richard L.; Fawzi, Elsaid Mahmoud; Schieving, Jolanda H.; Tarailo Graovac, Maja
 ; Orcesi, Simona; Steenweg, Marjan E.; van, Berkel Carola G. M.; Waisfisz, Quinten; Abbink, Truus E. M.; van, der Knaap Marjo S.; Hobson, Grace M.; Wolf, Nicole I.; | Научни чланак | Мп категорија ће бити приказана накнадно. |
| 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 |
| 2014 | Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities | Salvarinova, Ramona; Ye, Cynthia X.; Rossi, Andrea; Biancheri, Roberta; Roland, Elke H.; Pavlidis, Paul; Ross, Colin J.; Tarailo Graovac, Maja ; Wasserman, Wyeth W.; van, Karnebeek Clara D. M. | Article | 21M21 |