PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Journal article published in 2023 by
Alexander J. M. Dingemans,
Max Hinne,
Kim M. G. Truijen,
Lia Goltstein 
,
Jeroen van Reeuwijk ,
Nicole de Leeuw ,
Janneke Schuurs-Hoeijmakers,
Rolph Pfundt,
Illja J. Diets,
Joery den Hoed ,
Elke de Boer ,
Jet Coenen-Van der Spek ,
Sandra Jansen,
Bregje W. van Bon,
Noraly Jonis
and other authors.
,
Jeroen van Reeuwijk ,
Nicole de Leeuw ,
Janneke Schuurs-Hoeijmakers,
Rolph Pfundt,
Illja J. Diets,
Joery den Hoed ,
Elke de Boer ,
Jet Coenen-Van der Spek ,
Sandra Jansen,
Bregje W. van Bon,
Noraly Jonis
and other authors.
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