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de Boer, Eddy N.
1763  Ergebnisse:
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1

Future of Dutch NGS-Based Newborn Screening: Exploring the ..:

Kiewiet, Gea ; Westra, Dineke ; de Boer, Eddy N....
International Journal of Neonatal Screening.  10 (2024)  1 - p. 20 , 2024
Link: https://doi.org/10.3390/..
 
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2

Cas9-directed long-read sequencing to resolve optical genom..:

de Boer, Eddy N. ; Vroom, Vincent ; Scheper, Arjen J....
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

Prevalence of intronic repeat expansions in RFC1 in Dutch p..:

Ghorbani, Fatemeh ; de Boer-Bergsma, Jelkje ; Verschuuren-Bemelmans, Corien C....
Journal of Neurology.  269 (2022)  11 - p. 6086-6093 , 2022
Link: https://doi.org/10.1007/..
 
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4

Detection of Fusion Genes to Determine Minimal Residual Dis..:

de Boer, Eddy N ; Johansson, Lennart F ; de Lange, Kim...
Clinical Chemistry.  66 (2020)  8 - p. 1084-1092 , 2020
Link: https://doi.org/10.1093/..
 
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5

Targeted RNA-Sequencing Enables Detection of Relevant Trans..:

de Lange, Kim ; de Boer, Eddy N ; Bosga, Anneke...
Clinical Chemistry.  66 (2020)  12 - p. 1521-1530 , 2020
Link: https://doi.org/10.1093/..
 
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6

A next-generation sequencing method for gene doping detecti..:

de Boer, Eddy N. ; van der Wouden, Petra E. ; Johansson, Lennart F...
Gene Therapy.  26 (2019)  7-8 - p. 338-346 , 2019
Link: https://doi.org/10.1038/..
 
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7

NIPTeR: an R package for fast and accurate trisomy predicti..:

Johansson, Lennart F. ; de Weerd, Hendrik A. ; de Boer, Eddy N....
BMC Bioinformatics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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8

Genetic Screening Test to Detect Translocations in Acute Le..:

Sikkema-Raddatz, Birgit ; van den Berg, Eva ; Sijmons, Rolf H...
Clinical Chemistry.  64 (2018)  7 - p. 1096-1103 , 2018
Link: https://doi.org/10.1373/..
 
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9

GAVIN: Gene-Aware Variant INterpretation for medical sequen..:

van der Velde, K. Joeri ; de Boer, Eddy N. ; van Diemen, Cleo C....
Genome Biology.  18 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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10

CoNVaDING: Single Exon Variation Detection in Targeted NGS ..:

Johansson, Lennart F. ; van Dijk, Freerk ; de Boer, Eddy N....
Human Mutation.  37 (2016)  5 - p. 457-464 , 2016
Link: https://doi.org/10.1002/..
 
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11

NIPTRIC: an online tool for clinical interpretation of non-..:

Sikkema-Raddatz, Birgit ; Johansson, Lennart F. ; de Boer, Eddy N....
Scientific Reports.  6 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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12

Targeted Next-Generation Sequencing can Replace Sanger Sequ..:

Sikkema-Raddatz, Birgit ; Johansson, Lennart F. ; de Boer, Eddy N....
Human Mutation.  34 (2013)  7 - p. 1035-1042 , 2013
Link: https://doi.org/10.1002/..
 
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13

Copy Number Variant Analysis of Spinocerebellar Ataxia Gene..:

Ghorbani, Fatemeh ; de Boer, Eddy N ; Benjamins-Stok, Marloes...
https://research.rug.nl/en/publications/4458fc71-af99-43b6-8d73-a46444d14de3.  , 2023
Link: https://hdl.handle.net/1..
 
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14

Copy Number Variant Analysis of Spinocerebellar Ataxia Gene..:

Ghorbani, Fatemeh ; de Boer, Eddy N ; Benjamins-Stok, Marloes...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696507/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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15

Prevalence of intronic repeat expansions in RFC1 in Dutch p..:

Ghorbani, Fatemeh ; de Boer-Bergsma, Jelkje ; Verschuuren-Bemelmans, Corien C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553829/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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