Showing 1–18 of 18 results
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Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome
- D Babovic-Vuksanovic
- , Ludwine Messiaen
- , Christoph Nagel
- , Hilde Brems
- , Bernd Scheithauer
- , Ellen Denayer
- , Rong Mao
- , Raf Sciot
- , Karen M Janowski
- , Martin U Schuhmann
- , Kathleen Claes
- , Eline Beert
- , James A Garrity
- , Robert J Spinner
- , Anat Stemmer-Rachamimov
- , Ralitza Gavrilova
- , Frank Van Calenbergh
- , Victor Mautner
- & Eric Legius
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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
- Marc Cruts
- , Ilse Gijselinck
- , Julie van der Zee
- , Sebastiaan Engelborghs
- , Hans Wils
- , Daniel Pirici
- , Rosa Rademakers
- , Rik Vandenberghe
- , Bart Dermaut
- , Jean-Jacques Martin
- , Cornelia van Duijn
- , Karin Peeters
- , Raf Sciot
- , Patrick Santens
- , Tim De Pooter
- , Maria Mattheijssens
- , Marleen Van den Broeck
- , Ivy Cuijt
- , Krist'l Vennekens
- , Peter P. De Deyn
- , Samir Kumar-Singh
- & Christine Van Broeckhoven
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A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations
- Shinji Kohsaka
- , Neerav Shukla
- , Nabahet Ameur
- , Tatsuo Ito
- , Charlotte K Y Ng
- , Lu Wang
- , Diana Lim
- , Angela Marchetti
- , Agnes Viale
- , Mono Pirun
- , Nicholas D Socci
- , Li-Xuan Qin
- , Raf Sciot
- , Julia Bridge
- , Samuel Singer
- , Paul Meyers
- , Leonard H Wexler
- , Frederic G Barr
- , Snjezana Dogan
- , Jonathan A Fletcher
- , Jorge S Reis-Filho
- & Marc Ladanyi
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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
- Twinkal C Pansuriya
- , Ronald van Eijk
- , Pio d'Adamo
- , Maayke A J H van Ruler
- , Marieke L Kuijjer
- , Jan Oosting
- , Anne-Marie Cleton-Jansen
- , Jolieke G van Oosterwijk
- , Sofie L J Verbeke
- , Daniëlle Meijer
- , Tom van Wezel
- , Karolin H Nord
- , Luca Sangiorgi
- , Berkin Toker
- , Bernadette Liegl-Atzwanger
- , Mikel San-Julian
- , Raf Sciot
- , Nisha Limaye
- , Lars-Gunnar Kindblom
- , Soeren Daugaard
- , Catherine Godfraind
- , Laurence M Boon
- , Miikka Vikkula
- , Kyle C Kurek
- , Karoly Szuhai
- , Pim J French
- & Judith V M G Bovée
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Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration
- Bert Oosthuyse
- , Lieve Moons
- , Erik Storkebaum
- , Heike Beck
- , Dieter Nuyens
- , Koen Brusselmans
- , Jo Van Dorpe
- , Peter Hellings
- , Marchel Gorselink
- , Stéphane Heymans
- , Gregor Theilmeier
- , Mieke Dewerchin
- , Vincent Laudenbach
- , Patrick Vermylen
- , Harold Raat
- , Till Acker
- , Vicky Vleminckx
- , Ludo Van Den Bosch
- , Neil Cashman
- , Hajime Fujisawa
- , Maarten R. Drost
- , Raf Sciot
- , Frans Bruyninckx
- , Daniel J Hicklin
- , Can Ince
- , Pierre Gressens
- , Florea Lupu
- , Karl H. Plate
- , Wim Robberecht
- , Jean-Marc Herbert
- , Désiré Collen
- & Peter Carmeliet