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RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

European Journal of Human Genetics
2025-01-27 | Journal article
Contributors: Maxim Verlee; Erika D’haenens; Laurenz De Cock; Laura Muiño Mosquera; Katya De Groote; Kristof Vandekerckhove; Joseph Panzer; Ellen Roets; Björn Menten; Sofie Symoens et al.
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Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

Genes
2021-03-31 | Journal article
Contributors: Maxim Verlee; Aude Beyens; Alper Gezdirici; Elif Yilmaz Gulec; Lore Pottie; Silke De Feyter; Michiel Vanhooydonck; Piyanoot Tapaneeyaphan; Sofie Symoens; Bert Callewaert
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