Katrien Stouffs

6PUBLICATIONS
30CO-AUTHORS
Developmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)Energy generation, conversion and storage (excl. chemical and electrical)Infant and child healthNeurology and neuromuscular diseases
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Publications (6)

|Oct 25, 2023
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Mathilde Gras, Solveig Heide, Boris Keren

|Apr 08, 2022
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.

Stefanie Brock, Annie Laquerriere, Florent Marguet

|Jan 28, 2021
Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence.

Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont

|Sep 08, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical development.

Renske Oegema, Tahsin Stefan Barakat, Martina Wilke

|Aug 22, 2020
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.

Alka Malhotra, Alban Ziegler, Li Shu

|Jun 24, 2020
Defining the phenotypical spectrum associated with variants in TUBB2A.

Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning

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Frequent Collaborators

3 joint publications

Anna C Jansen

2 joint publications

Stefanie Brock

1 joint publications

Romina Romaniello

1 joint publications

Alka Malhotra