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Stouffs, Katrien
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1

Macrocephaly? Do not Forget SUFU:

Rijckmans, Ellen ; Bordon, Victoria ; de Ravel, Thomy...
Pediatric Neurology.  151 (2024)  - p. 34-36 , 2024
Link: https://doi.org/10.1016/..
 
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2

Diagnostic work‐up in malformations of cortical development:

Rijckmans, Ellen ; Stouffs, Katrien ; Jansen, Anna C.
Developmental Medicine & Child Neurology.  66 (2024)  8 - p. 974-989 , 2024
Link: https://doi.org/10.1111/..
 
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3

Children born after assisted reproduction more commonly car..:

Mertens, Joke ; Belva, Florence ; van Montfoort, Aafke P. A....
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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4

TREX‐1 related Aicardi‐Goutières syndrome improved by Janus..:

Ryckmans, Claire ; Donge, Mylène ; Marchèse, Antonia...
American Journal of Medical Genetics Part A.  194 (2023)  5 - p. , 2023
Link: https://doi.org/10.1002/..
 
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5

Activating RAC1 variants in the switch II region cause a de..:

Banka, Siddharth ; Bennington, Abigail ; Baker, Martin J...
Brain.  145 (2022)  12 - p. 4232-4245 , 2022
Link: https://doi.org/10.1093/..
 
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6

Impaired catabolism of free oligosaccharides due to MAN2C1 ..:

Maia, Nuno ; Potelle, Sven ; Yildirim, Hamide...
The American Journal of Human Genetics.  109 (2022)  2 - p. 345-360 , 2022
Link: https://doi.org/10.1016/..
 
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7

Malformations of cerebral development and clues from the pe..:

Rijckmans, Ellen ; Stouffs, Katrien ; Jansen, Anna C..
European Journal of Paediatric Neurology.  37 (2022)  - p. 155-164 , 2022
Link: https://doi.org/10.1016/..
 
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8

Loss, Gain and Altered Function of GlyR α2 Subunit Mutation..:

Chen, Xiumin ; Wilson, Katie A. ; Schaefer, Natascha...
Frontiers in Molecular Neuroscience.  15 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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9

Novel Variant in COL4A1 Causes Extensive Prenatal Intracran..:

Brock, Stefanie ; Michotte, Alex ; Doné, Elisa...
Journal of Neuropathology & Experimental Neurology.  80 (2021)  8 - p. 807-810 , 2021
Link: https://doi.org/10.1093/..
 
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10

Functional analysis of the F337C mutation in the CLCN1 gene..:

Jehasse, Kevin ; Jacquerie, Kathleen ; de Froidmont, Alice...
Molecular Genetics & Genomic Medicine.  9 (2021)  2 - p. , 2021
Link: https://doi.org/10.1002/..
 
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11

Defining the phenotypical spectrum associated with variants..:

Brock, Stefanie ; Vanderhasselt, Tim ; Vermaning, Sietske...
Journal of Medical Genetics.  58 (2020)  1 - p. 33-40 , 2020
Link: https://doi.org/10.1136/..
 
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12

Genetic heterogeneity of polymicrogyria: study of 123 patie..:

Stutterd, Chloe A ; Brock, Stefanie ; Stouffs, Katrien...
Brain Communications.  3 (2020)  1 - p. , 2020
Link: https://doi.org/10.1093/..
 
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13

Recurrent NEDD4L Variant in Periventricular Nodular Heterot..:

Stouffs, Katrien ; Verloo, Patrick ; Brock, Stefanie...
Frontiers in Genetics.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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14

Chudley-McCullough Syndrome: A Recognizable Clinical Entity..:

Blauen, Aglaë ; Stutterd, Chloe A. ; Stouffs, Katrien...
Journal of Child Neurology.  36 (2020)  2 - p. 152-158 , 2020
Link: https://doi.org/10.1177/..
 
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15

International consensus recommendations on the diagnostic w..:

Oegema, Renske ; Barakat, Tahsin Stefan ; Wilke, Martina...
Nature Reviews Neurology.  16 (2020)  11 - p. 618-635 , 2020
Link: https://doi.org/10.1038/..
 
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