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Brilstra, Eva H.
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1

The Association between Intracranial Calcifications and Sym..:

Mathijssen, Gini ; van Valen, Evelien ; de Jong, Pim A....
Journal of Clinical Medicine.  13 (2024)  3 - p. 828 , 2024
Link: https://doi.org/10.3390/..
 
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2

The effects of etidronate on brain calcifications in Fahr's..:

Snijders, Birgitta MG ; Mathijssen, Gini ; Peters, Mike JL...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

Understanding neurodevelopmental trajectories and behaviora..:

Postma, Amber ; Minderhoud, Crista A. ; Otte, Wim M....
Epilepsy & Behavior.  154 (2024)  - p. 109726 , 2024
Link: https://doi.org/10.1016/..
 
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4

Epilepsy is an important feature of KBG syndrome associated..:

Buijsse, Nathan ; Jansen, Floor E. ; Ockeloen, Charlotte W....
Epilepsia Open.  8 (2023)  4 - p. 1300-1313 , 2023
Link: https://doi.org/10.1002/..
 
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5

Challenging behavior in children and adolescents with Drave..:

Postma, Amber ; Milota, Megan ; Jongmans, Marian J...
Epilepsy & Behavior.  138 (2023)  - p. 108978 , 2023
Link: https://doi.org/10.1016/..
 
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6

Identification of candidate genes for developmental colour ..:

Nijboer, Tanja C. W. ; Hessel, Ellen V. S. ; van Haaften, Gijs W....
PLOS ONE.  18 (2023)  9 - p. e0290013 , 2023
Link: https://doi.org/10.1371/..
 
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7

Toward responsible clinical n-of-1 strategies for rare dise..:

Defelippe, Victoria M. ; J.M.W. van Thiel, Ghislaine ; Otte, Willem M....
Drug Discovery Today.  28 (2023)  10 - p. 103688 , 2023
Link: https://doi.org/10.1016/..
 
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8

Distal spinal muscular atrophy featured by predominant calf..:

Demaegd, Koen ; Brilstra, Eva H. ; Hoogendijk, Jessica E....
Neuromuscular Disorders.  32 (2022)  6 - p. 527-532 , 2022
Link: https://doi.org/10.1016/..
 
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9

De novo variants in SNAP25 cause an early-onset development..:

Klöckner, Chiara ; Sticht, Heinrich ; Zacher, Pia...
Genetics in Medicine.  23 (2021)  4 - p. 653-660 , 2021
Link: https://doi.org/10.1038/..
 
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10

Pathogenic MAST3 Variants in the STK Domain Are Associated ..:

Spinelli, Egidio ; Christensen, Kyle R. ; Bryant, Emily...
Annals of Neurology.  90 (2021)  2 - p. 274-284 , 2021
Link: https://doi.org/10.1002/..
 
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11

Genotype-phenotype correlations of KIF5A stalk domain varia..:

de Boer, Eva M. J. ; van Rheenen, Wouter ; Goedee, H. Stephan...
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.  22 (2021)  7-8 - p. 561-570 , 2021
Link: https://doi.org/10.1080/..
 
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12

Changes in empowerment and anxiety of patients and parents ..:

Vlaskamp, Danique R.M. ; Rump, Patrick ; Callenbach, Petra M.C....
European Journal of Paediatric Neurology.  32 (2021)  - p. 128-135 , 2021
Link: https://doi.org/10.1016/..
 
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13

Correction to: De novo variants in SNAP25 cause an early-on..:

Klöckner, Chiara ; Sticht, Heinrich ; Zacher, Pia...
Genetics in Medicine.  23 (2021)  4 - p. 796 , 2021
Link: https://doi.org/10.1038/..
 
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14

Cardiac arrhythmias in Dravet syndrome: an observational mu..:

Shmuely, Sharon ; Surges, Rainer ; Helling, Robert M....
Annals of Clinical and Translational Neurology.  7 (2020)  4 - p. 462-473 , 2020
Link: https://doi.org/10.1002/..
 
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15

Modifier genes in SCN1A‐related epilepsy syndromes:

de Lange, Iris M. ; Mulder, Flip ; van 't Slot, Ruben...
Molecular Genetics & Genomic Medicine.  8 (2020)  4 - p. , 2020
Link: https://doi.org/10.1002/..
 
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