Institut de Pathologie et de Génétique a.s.b.l.

Hospital


Location: Gosselies, Belgium (BE) BE

ISNI: 0000000405780894

ROR: https://ror.org/00zam0e96

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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Abstract

Journal

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance (2022) Goekdere S, Schneider H, Hehr U, Willen L, Schneider P, Maier-Wohlfart S Journal article Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6 (2022) Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, et al. Journal article Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability (2020) Asadollahi R, Boonsawat P, Popp B, Torti E, Bader I, Vitobello A, Moutton S, et al. Conference contribution