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Verbeek, Nienke
172  Ergebnisse:
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1

Missense variants in ANO4 cause sporadic encephalopathic or..:

Yang, Fang ; Begemann, Anais ; Reichhart, Nadine...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1184-1205 , 2024
Link: https://doi.org/10.1016/..
 
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2

DNA methylation episignature and comparative epigenomic pro..:

Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica...
Genetics in Medicine.  25 (2023)  8 - p. 100871 , 2023
Link: https://doi.org/10.1016/..
 
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3

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
The American Journal of Human Genetics.  109 (2022)  4 - p. 750-758 , 2022
Link: https://doi.org/10.1016/..
 
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4

Systematic analysis of short tandem repeats in 38,095 exome..:

van der Sanden, Bart P.G.H. ; Corominas, Jordi ; de Groot, Michelle...
Genetics in Medicine.  23 (2021)  8 - p. 1569-1573 , 2021
Link: https://doi.org/10.1038/..
 
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5

KCNT1-related epilepsies and epileptic encephalopathies: ph..:

Bonardi, Claudia M ; Heyne, Henrike O ; Fiannacca, Martina...
Brain.  144 (2021)  12 - p. 3635-3650 , 2021
Link: https://doi.org/10.1093/..
 
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6

Treatment Responsiveness in KCNT1-Related Epilepsy:

Fitzgerald, Mark P. ; Fiannacca, Martina ; Smith, Douglas M....
Neurotherapeutics.  16 (2019)  3 - p. 848-857 , 2019
Link: https://doi.org/10.1007/..
 
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7

Genetic and phenotypic heterogeneity suggest therapeutic im..:

Wolff, Markus ; Johannesen, Katrine M. ; Hedrich, Ulrike B. S....
Brain.  140 (2017)  5 - p. 1316-1336 , 2017
Link: https://doi.org/10.1093/..
 
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8

Photosensitivity in Dravet syndrome is under-recognized and..:

Verbeek, Nienke ; Kasteleijn-Nolst Trenité, Dorothée ; Wassenaar, Merel...
Clinical Neurophysiology.  128 (2017)  2 - p. 323-330 , 2017
Link: https://doi.org/10.1016/..
 
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9

De novo CCND2 mutations leading to stabilization of cyclin ..:

FORGE Canada Consortium ; Mirzaa, Ghayda M ; Parry, David A...
Nature Genetics.  46 (2014)  5 - p. 510-515 , 2014
Link: https://doi.org/10.1038/..
 
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10

PRRT2phenotypes and penetrance of paroxysmal kinesigenic dy..:

van Vliet, Rianne ; Breedveld, Guido ; de Rijk-van Andel, Johanneke...
Neurology.  79 (2012)  8 - p. 777-784 , 2012
Link: https://doi.org/10.1212/..
 
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11

The detection of a strong episignature for Chung–Jansen syn..:

Vos, Niels ; Haghshenas, Sadegheh ; van der Laan, Liselot...
Human Genetics.  143 (2024)  6 - p. 761-773 , 2024
Link: https://doi.org/10.1007/..
 
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12

Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch At..:

van de Pol, Milo ; O'Gorman, Luke ; Corominas‐Galbany, Jordi...
Movement Disorders.  38 (2023)  8 - p. 1555-1556 , 2023
Link: https://doi.org/10.1002/..
 
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13

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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14

Loss-of-function variants in SRRM2 cause a neurodevelopment..:

Cuinat, Silvestre ; Nizon, Mathilde ; Isidor, Bertrand...
Genetics in Medicine.  24 (2022)  8 - p. 1774-1780 , 2022
Link: https://doi.org/10.1016/..
 
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15

Structural mapping of GABRB3 variants reveals genotype–phen..:

Johannesen, Katrine M. ; Iqbal, Sumaiya ; Guazzi, Milena...
Genetics in Medicine.  24 (2022)  3 - p. 681-693 , 2022
Link: https://doi.org/10.1016/..
 
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