Stella A de Man
4PUBLICATIONS
56CO-AUTHORS
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Publications (4)
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|May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.Marcello Scala, Nathalie Drouot, Suzanna C MacLennan
|May 18, 2022
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.Aguan D Wei, Paul Wakenight, Theresa A Zwingman
|May 04, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.Ilaria Parenti, Daphné Lehalle, Caroline Nava
|May 03, 2021
Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.Marja W Wessels, Marjon H Cnossen, Thamar B van Dijk
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Frequent Collaborators
1 joint publications
Marjon H Cnossen
1 joint publications
Divya S Vinjamur
1 joint publications
Rolph Pfundt
1 joint publications
Rutger W W Brouwer
1 joint publications
Daniel E Bauer
1 joint publications
Mirjam C G N van den Hout
1 joint publications
Wilfred F J van IJcken
1 joint publications
Sjaak Philipsen
1 joint publications
Ilaria Parenti
1 joint publications
Daphné Lehalle
