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2 research outputs found
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
Author
Bernier R.
Bongers E.M.H.F.
+7Â more
Bouman Arjan
Dingemans A.J.M.
Kleefstra T.
Truijen Kim M.G.
Ven Sam van de
Vissers L.E.L.M.
Vries B.B.A. de
Publication venue
'Springer Science and Business Media LLC'
Publication date
01/01/2022
Field of study
No full text
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Author
Alkuraya Fowzan S.
Baralle Diana
+31Â more
Campeau Philippe M.
de Boer Elke
de Leeuw Nicole
de Vries Bert B.A.
den Hoed Joery
Diets Illja J.
Dingemans Alexander J.M.
Goltstein Lia
Hinne Max
Jansen Sandra
Jonis Noraly
Kleefstra Tjitske
Koolen David A.
Kooy Frank
Lyon Gholson J.
Marom Ronit
Ockeloen Charlotte W.
Palmer Elizabeth E.
Pfundt Rolph
Rauch Anita
Santen Gijs W.E.
Schuurs-Hoeijmakers Janneke
Truijen Kim M.G.
van Bon Bregje W.
van der Sluijs Pleuntje J.
van der Spek Jet
Van Esch Hilde
van Gerven Marcel A.J.
van Reeuwijk Jeroen
Vissers Lisenka E.L.M.
Vulto-van Silfhout Anneke T.
Publication venue
Publication date
07/02/2024
Field of study
No full text
Institutional Repository Universiteit Antwerpen
No full text
