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Research outputs
Novel unconventional variants expand the allelic spectrum of OPHN1 gene [2021]
Nuovo, Sara; Brankovic, Vesna; Caputi, Caterina; Casella, Antonella; Nigro, Vincenzo; Leuzzi, Vincenzo; Valente, Enza MariaSleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort
[2022]
Budimirovic, Dejan B.; Protić, Dragana D. 
; Delahunty, Carol M.; Andrews, Howard F.; Choo, Tse-Hwei; Xu, Qing; Berry-Kravis, Elizabeth; Kaufmann, Walter E.
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor [2018]
Harms, Frederike L; Alawi, Malik; Amor, David J; Tan, Tiong Y; Cuturilo, Goran; Lissewski, Christina; Brinkmann, Julia; Schanze, Denny; Kutsche, Kerstin; Zenker, MartinClinical delineation of the PACS1-related syndrome--Report on 19 patients [2016]
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.;
; 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.; Filters
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