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Ockeloen, Charlotte W.
125  results:
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1

Pathogenic variants in KMT2C result in a neurodevelopmental..:

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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2

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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3

Comprehensive EHMT1 variants analysis broadens genotype-phe..:

Rots, Dmitrijs ; Bouman, Arianne ; Yamada, Ayumi...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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4

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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5

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/..
 
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6

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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7

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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8

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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9

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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10

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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11

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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12

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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13

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/..
 
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14

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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15

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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