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Showing 1–5 of 5 results
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Research |
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
- Lisenka ELM Vissers
- , Monica Bonetti
- , Jeroen Paardekooper Overman
- , Willy M Nillesen
- , Suzanna G M Frints
- , Joep de Ligt
- , Giuseppe Zampino
- , Ana Justino
- , José C Machado
- , Marga Schepens
- , Han G Brunner
- , Joris A Veltman
- , Hans Scheffer
- , Piet Gros
- , José L Costa
- , Marco Tartaglia
- , Ineke van der Burgt
- , Helger G Yntema
- & Jeroen den Hertog
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Research |
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
- Petter Strømme
- , Marie E. Mangelsdorf
- , Marie A. Shaw
- , Karen M. Lower
- , Suzanne M.E. Lewis
- , Helene Bruyere
- , Viggo Lütcherath
- , Ági K. Gedeon
- , Robyn H. Wallace
- , Ingrid E. Scheffer
- , Gillian Turner
- , Michael Partington
- , Suzanna G.M. Frints
- , Jean-Pierre Fryns
- , Grant R. Sutherland
- , John C. Mulley
- & Jozef Gécz
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Research |
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Research |
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
- Suzanna G. M. Frints
- , Aysegul Ozanturk
- , Germán Rodríguez Criado
- , Ute Grasshoff
- , Bas de Hoon
- , Michael Field
- , Sylvie Manouvrier-Hanu
- , Scott E. Hickey
- , Molka Kammoun
- , Karen W. Gripp
- , Claudia Bauer
- , Christopher Schroeder
- , Annick Toutain
- , Theresa Mihalic Mosher
- , Benjamin J. Kelly
- , Peter White
- , Andreas Dufke
- , Eveline Rentmeester
- , Sungjin Moon
- , Daniel C Koboldt
- , Kees E. P. van Roozendaal
- , Hao Hu
- , Stefan A. Haas
- , Hans-Hilger Ropers
- , Lucinda Murray
- , Eric Haan
- , Marie Shaw
- , Renee Carroll
- , Kathryn Friend
- , Jan Liebelt
- , Lynne Hobson
- , Marjan De Rademaeker
- , Joep Geraedts
- , Jean-Pierre Fryns
- , Joris Vermeesch
- , Martine Raynaud
- , Olaf Riess
- , Joost Gribnau
- , Nicholas Katsanis
- , Koen Devriendt
- , Peter Bauer
- , Jozef Gecz
- , Christelle Golzio
- , Cristina Gontan
- & Vera M. Kalscheuer
