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Vijzelaar, Raymon
38
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Online (38)
Mediatypes
Articles (Online) (19)
OpenAccess-fulltext (19)
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1
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN..:
Haer-Wigman, Lonneke
;
den Ouden, Amber
;
Derks, Ronny
...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
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2
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gen..:
Haer-Wigman, Lonneke
;
den Ouden, Amber
;
van Genderen, Maria M.
...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
3
The landscape of submicroscopic structural variants at theO..:
Wissinger, Bernd
;
Baumann, Britta
;
Buena-Atienza, Elena
...
Proceedings of the National Academy of Sciences. 119 (2022) 27 - p. , 2022
Link:
https://doi.org/10.1073/..
?
4
Preemptive screening of DPYD as part of clinical practice: ..:
Saarenheimo, Jatta
;
Wahid, Nesna
;
Eigeliene, Natalja
...
Cancer Chemotherapy and Pharmacology. 87 (2021) 5 - p. 657-663 , 2021
Link:
https://doi.org/10.1007/..
?
5
Intragenic and structural variation in the SMN locus and cl..:
Wadman, Renske I
;
Jansen, Marc D
;
Stam, Marloes
...
Brain Communications. 2 (2020) 2 - p. , 2020
Link:
https://doi.org/10.1093/..
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6
The frequency of SMN gene variants lacking exon 7 and 8 is ..:
Vijzelaar, Raymon
;
Snetselaar, Reinier
;
Clausen, Martijn
...
PLOS ONE. 14 (2019) 7 - p. e0220211 , 2019
Link:
https://doi.org/10.1371/..
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7
Multi-ethnicSULT1A1cOpy Number Profiling with Multiplex Lig..:
Vijzelaar, Raymon
;
Botton, Mariana R
;
Stolk, Lisette
...
Pharmacogenomics. 19 (2018) 9 - p. 761-770 , 2018
Link:
https://doi.org/10.2217/..
?
8
Steroid Sulfatase Deficiency and Androgen Activation Before..:
Idkowiak, Jan
;
Taylor, Angela E.
;
Subtil, Sandra
...
The Journal of Clinical Endocrinology & Metabolism. 101 (2016) 6 - p. 2545-2553 , 2016
Link:
https://doi.org/10.1210/..
?
9
MLPA-based approach for initial and simultaneous detection ..:
Amico, Giulia
;
Grossi, Serena
;
Vijzelaar, Raymon
...
Molecular Genetics and Metabolism. 119 (2016) 4 - p. 329-337 , 2016
Link:
https://doi.org/10.1016/..
?
10
Deletions within COL11A1in Type 2 stickler syndrome detecte..:
Vijzelaar, Raymon
;
Waller, Sarah
;
Errami, Abdellatif
...
BMC Medical Genetics. 14 (2013) 1 - p. , 2013
Link:
https://doi.org/10.1186/..
?
11
A multiplex assay to rapidly exclude HLA-DQ2.5 and HLA-DQ8 ..:
van Beek, Ellen M.
;
Roelandse-Koop, Elianne A.
;
Vijzelaar, Raymon
...
Clinical Chemistry and Laboratory Medicine (CCLM). 51 (2012) 6 - p. 1191-1198 , 2012
Link:
https://doi.org/10.1515/..
?
12
Genotype-Phenotype Analysis in Congenital Adrenal Hyperplas..:
Krone, Nils
;
Reisch, Nicole
;
Idkowiak, Jan
...
The Journal of Clinical Endocrinology & Metabolism. 97 (2012) 2 - p. E257-E267 , 2012
Link:
https://doi.org/10.1210/..
?
13
Identification of SPRED1 deletions using RT‐PCR, multiplex ..:
Spencer, Emily
;
Davis, Julia
;
Mikhail, Fady
...
American Journal of Medical Genetics Part A. 155 (2011) 6 - p. 1352-1359 , 2011
Link:
https://doi.org/10.1002/..
?
14
Characterization of a novel transcript of the EHMT1 gene re..:
Nillesen, Willy M.
;
Yntema, Helger G.
;
Moscarda, Marco
...
Human Mutation. 32 (2011) 7 - p. 853-859 , 2011
Link:
https://doi.org/10.1002/..
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15
Intragenic deletions and a deep intronic mutation affecting..:
van Kuilenburg, André B. P.
;
Meijer, Judith
;
Mul, Adri N. P. M.
...
Human Genetics. 128 (2010) 5 - p. 529-538 , 2010
Link:
https://doi.org/10.1007/..
1-15