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Ockeloen, Charlotte W.
123
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Online (123)
Mediatypes
Articles (Online) (42)
OpenAccess-fulltext (80)
Thesis (Online) (1)
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1
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural Hi..:
Demirdas, Serwet
;
van den Bersselaar, Lisa M.
;
Lechner, Rosan
...
Circulation: Genomic and Precision Medicine. 17 (2024) 3 - p. , 2024
Link:
https://doi.org/10.1161/..
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2
PhenoScore quantifies phenotypic variation for rare genetic..:
Dingemans, Alexander J. M.
;
Hinne, Max
;
Truijen, Kim M. G.
...
Nature Genetics. 55 (2023) 9 - p. 1598-1607 , 2023
Link:
https://doi.org/10.1038/..
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3
ANK2 loss-of-function variants are associated with epilepsy..:
Teunissen, Maria W A
;
Lewerissa, Elly
;
van Hugte, Eline J H
...
Human Molecular Genetics. 32 (2023) 14 - p. 2373-2385 , 2023
Link:
https://doi.org/10.1093/..
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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
Pathogenic variants in the paired-related homeobox 1 gene (..:
Tooze, Rebecca S.
;
Miller, Kerry A.
;
Swagemakers, Sigrid M.A.
...
Genetics in Medicine. 25 (2023) 9 - p. 100883 , 2023
Link:
https://doi.org/10.1016/..
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6
GenIDA, a participatory patient registry for genetic forms ..:
Colin, Florent
;
Burger, Pauline
;
Mazzucotelli, Timothée
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100817 , 2023
Link:
https://doi.org/10.1016/..
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7
Missense variants in ANKRD11 cause KBG syndrome by impairme..:
de Boer, Elke
;
Ockeloen, Charlotte W.
;
Kampen, Rosalie A.
...
Genetics in Medicine. 25 (2023) 11 - p. 100962 , 2023
Link:
https://doi.org/10.1016/..
?
8
Inherited variants in CHD3 show variable expressivity in Sn..:
van der Spek, Jet
;
den Hoed, Joery
;
Snijders Blok, Lot
...
Genetics in Medicine. 24 (2022) 6 - p. 1283-1296 , 2022
Link:
https://doi.org/10.1016/..
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9
Familial Bainbridge‐Ropers syndrome: Report of familial ASX..:
Schirwani, Schaida
;
Woods, Emily
;
Koolen, David A.
...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 29-36 , 2022
Link:
https://doi.org/10.1002/..
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10
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cy..:
Reurink, Janine
;
de Vrieze, Erik
;
Li, Catherina H. Z.
...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
11
Missense variants in ANKRD11 cause KBG syndrome by impairme..:
de Boer, Elke
;
Ockeloen, Charlotte W.
;
Kampen, Rosalie A.
...
Genetics in Medicine. 24 (2022) 10 - p. 2051-2064 , 2022
Link:
https://doi.org/10.1016/..
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12
How to proceed after "negative" exome: A review on genetic ..:
Wortmann, Saskia B.
;
Oud, Machteld M.
;
Alders, Mariëlle
...
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 663-681 , 2022
Link:
https://doi.org/10.1002/..
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13
MCM complex members MCM3 and MCM7 are associated with a phe..:
Knapp, Karen M.
;
Jenkins, Danielle E.
;
Sullivan, Rosie
...
European Journal of Human Genetics. 29 (2021) 7 - p. 1110-1120 , 2021
Link:
https://doi.org/10.1038/..
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14
Potential added value of combined DPYD/DPD genotyping and p..:
Ockeloen, Charlotte W
;
Raaijmakers, Aron
;
Hijmans-van der Vegt, Manon
...
Journal of Oncology Pharmacy Practice. 29 (2021) 1 - p. 5-13 , 2021
Link:
https://doi.org/10.1177/..
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15
A MT-TL1 variant identified by whole exome sequencing in an..:
de Boer, Elke
;
Ockeloen, Charlotte W.
;
Matalonga, Leslie
...
European Journal of Human Genetics. 29 (2021) 9 - p. 1359-1368 , 2021
Link:
https://doi.org/10.1038/..
1-15