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Volker-Touw, Catharina M. L.
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1

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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2

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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3

Early Lethal Noncompaction Cardiomyopathy in Siblings With ..:

Duvekot, Jantiene C. ; Baas, Annette F. ; Volker-Touw, Catharina M.L....
Canadian Journal of Cardiology.  37 (2021)  11 - p. 1864-1866 , 2021
Link: https://doi.org/10.1016/..
 
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4

Disruption of RFX family transcription factors causes autis..:

Harris, Holly K. ; Nakayama, Tojo ; Lai, Jenny...
Genetics in Medicine.  23 (2021)  6 - p. 1028-1040 , 2021
Link: https://doi.org/10.1038/..
 
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5

Changes in pediatric plasma acylcarnitines upon fasting for..:

van Rijt, Willemijn J. ; van der Ende, Rixt M. ; Volker-Touw, Catharina M.L....
Molecular Genetics and Metabolism.  127 (2019)  4 - p. 327-335 , 2019
Link: https://doi.org/10.1016/..
 
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6

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Ear..:

Ait-El-Mkadem, Samira ; Dayem-Quere, Manal ; Gusic, Mirjana...
The American Journal of Human Genetics.  100 (2017)  1 - p. 151-159 , 2017
Link: https://doi.org/10.1016/..
 
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7

Living on the edge: substrate competition explains loss of ..:

van Eunen, Karen ; Volker-Touw, Catharina M. L. ; Gerding, Albert...
BMC Biology.  14 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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8

DNA methylation episignature and comparative epigenomic pro..:

Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica...
info:eu-repo/semantics/altIdentifier/pmid/37120726.  , 2023
Link: https://hdl.handle.net/2..
 
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9

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

Cuinat, Silvestre ; Nizon, Mathilde ; Isidor, Bertrand...
https://research.rug.nl/en/publications/77735448-7d5b-48ef-953d-3b8af8523b5e.  , 2022
Link: https://hdl.handle.net/1..
 
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10

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

Cuinat, Silvestre ; Nizon, Mathilde ; Isidor, Bertrand...
https://cris.maastrichtuniversity.nl/en/publications/40da9a50-b6d1-4326-b6d6-a0240ffd802d.  , 2022
Link: https://cris.maastrichtu..
 
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11

Disruption of RFX family transcription factors causes autis..:

Harris, Holly K ; Nakayama, Tojo ; Lai, Jenny...
https://research.rug.nl/en/publications/0cec700f-320f-489c-b994-f6f3010f048b.  , 2021
Link: https://hdl.handle.net/1..
 
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12

Early Lethal Noncompaction Cardiomyopathy in Siblings With ..:

Duvekot, Jantiene C ; Baas, Annette F ; Volker-Touw, Catharina M.L...
0828-282X.  , 2021
Link: https://dspace.library.u..
 
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13

Disruption of RFX family transcription factors causes autis..:

Harris, Holly K ; Nakayama, Tojo ; Lai, Jenny...
https://portal.findresearcher.sdu.dk/da/publications/d55e32ba-6c09-4131-a27a-44da2dd4b882.  , 2021
Link: https://portal.findresea..
 
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14

Changes in pediatric plasma acylcarnitines upon fasting for..:

van Rijt, Willemijn J ; van der Ende, Rixt M ; Volker-Touw, Catharina M L...
https://research.rug.nl/en/publications/37a2408e-d8b6-47ae-808a-f43df761f5af.  , 2019
Link: https://hdl.handle.net/1..
 
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15

NBEA:Developmental disease gene with early generalized epil..:

Mulhern, Maureen S ; Stumpel, Constance ; Stong, Nicholas...
https://research.rug.nl/en/publications/156df0a8-8a8d-4d34-ae95-b8d35eff61f3.  , 2018
Link: https://hdl.handle.net/1..
 
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