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Redeker, Egbert
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1

Phenotypes and genotypes in individuals with SMC1A variants:

Huisman, Sylvia ; Mulder, Paul A. ; Redeker, Egbert...
American Journal of Medical Genetics Part A.  173 (2017)  8 - p. 2108-2125 , 2017
Link: https://doi.org/10.1002/..
 
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2

Development of NIPBL Locus-Specific Database Using LOVD: Fr..:

Oliveira, Jorge ; Dias, Cristina ; Redeker, Egbert...
Human Mutation.  31 (2010)  11 - p. 1216-1222 , 2010
Link: https://doi.org/10.1002/..
 
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3

Increased DNA damage sensitivity of Cornelia de Lange syndr..:

Vrouwe, Mischa G. ; Elghalbzouri-Maghrani, Elhaam ; Meijers, Matty...
Human Molecular Genetics.  16 (2007)  12 - p. 1478-1487 , 2007
Link: https://doi.org/10.1093/..
 
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4

51 Novel mutations in the LDL receptor gene of Dutch famili..:

Lombardi, M.Paola ; Defesche, Joep C. ; Kamerling, Sylvia W.A....
Atherosclerosis.  130 (1997)  - p. S14 , 1997
Link: https://doi.org/10.1016/..
 
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5

Framing the potential of public frameshift peptides as immu..:

Spaanderman, Ide T. ; Peters, Fleur S. ; Jongejan, Aldo...
PLOS ONE.  16 (2021)  6 - p. e0251630 , 2021
Link: https://doi.org/10.1371/..
 
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6

With expanded carrier screening, founder populations run th..:

Mathijssen, Inge B. ; van Maarle, Merel C. ; Kleiss, Iris I.M....
Journal of Community Genetics.  8 (2017)  4 - p. 327-333 , 2017
Link: https://doi.org/10.1007/..
 
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7

Uptake of prenatal diagnostic testing for retinoblastoma co..:

Dommering, Charlotte J. ; Henneman, Lidewij ; van der Hout, Annemarie H....
Familial Cancer.  16 (2016)  2 - p. 271-277 , 2016
Link: https://doi.org/10.1007/..
 
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8

Targeted carrier screening for four recessive disorders: Hi..:

Mathijssen, Inge B. ; Henneman, Lidewij ; van Eeten-Nijman, Janneke M.C....
European Journal of Medical Genetics.  58 (2015)  3 - p. 123-128 , 2015
Link: https://doi.org/10.1016/..
 
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9

Whole-exome sequencing is a powerful approach for establish..:

Rump, Patrick ; Jazayeri, Omid ; van Dijk-Bos, Krista K....
BMC Medical Genomics.  9 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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10

Microfluidic Amplification as a Tool for Massive Parallel S..:

Matthijs, Gert ; Redeker, Egbert J W ; Hollants, Silke
Clinical Chemistry.  58 (2012)  4 - p. 717-724 , 2012
Link: https://doi.org/10.1373/..
 
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11

Leiden open variation database of the MUTYH gene:

Out, Astrid A. ; Tops, Carli M.J. ; Nielsen, Maartje...
Human Mutation.  31 (2010)  11 - p. 1205-1215 , 2010
Link: https://doi.org/10.1002/..
 
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12

A new mutation in the SH3BP2 gene showing reduced penetranc..:

de Lange, Jan ; van Maarle, Merel C. ; van den Akker, Hans P..
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology.  103 (2007)  3 - p. 378-381 , 2007
Link: https://doi.org/10.1016/..
 
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13

DNA analysis of the SH3BP2 gene in patients with aggressive..:

de Lange, Jan ; van Maarle, Merel C. ; van den Akker, Hans P..
British Journal of Oral and Maxillofacial Surgery.  45 (2007)  6 - p. 499-500 , 2007
Link: https://doi.org/10.1016/..
 
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14

Molecular genetic testing for familial hypercholesterolemia..:

Lombardi, M Paola ; Redeker, Egbert Jw ; Defesche, Joep C...
Clinical Genetics.  57 (2000)  2 - p. 116-124 , 2000
Link: https://doi.org/10.1034/..
 
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15

Two major components of synaptonemal complexes are specific..:

Heyting, Christa ; Dettmers, Robert J. ; Dietrich, Axel J. J...
Chromosoma.  96 (1988)  4 - p. 325-332 , 1988
Link: https://doi.org/10.1007/..
 
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