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Lelieveld, Stefan H.
253  Ergebnisse:
Personensuche X
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1

Clonal dynamics in pediatric B‐cell precursor acute lymphob..:

Antić, Željko ; Yu, Jiangyan ; Bornhauser, Beat C....
Pediatric Blood & Cancer.  69 (2021)  1 - p. , 2021
Link: https://doi.org/10.1002/..
 
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2

Unravelling the Sequential Interplay of Mutational Mechanis..:

Antić, Željko ; Lelieveld, Stefan H. ; van der Ham, Cédric G....
Genes.  12 (2021)  2 - p. 214 , 2021
Link: https://doi.org/10.3390/..
 
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3

Evidence for 28 genetic disorders discovered by combining h..:

Kaplanis, Joanna ; Samocha, Kaitlin E. ; Wiel, Laurens...
Nature.  586 (2020)  7831 - p. 757-762 , 2020
Link: https://doi.org/10.1038/..
 
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4

Exome sequencing in routine diagnostics: a generic test for..:

Arts, Peer ; Simons, Annet ; AlZahrani, Mofareh S....
Genome Medicine.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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5

Heterozygous missense variants of LMX1A lead to nonsyndromi..:

DOOFNL Consortium ; Wesdorp, Mieke ; de Koning Gans, Pia A. M....
Human Genetics.  137 (2018)  5 - p. 389-400 , 2018
Link: https://doi.org/10.1007/..
 
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6

BRCA Testing by Single-Molecule Molecular Inversion Probes:

Hoischen, Alexander ; Nelen, Marcel R ; Shendure, Jay...
Clinical Chemistry.  63 (2017)  2 - p. 503-512 , 2017
Link: https://doi.org/10.1373/..
 
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7

Diagnostic exome sequencing in 266 Dutch patients with visu..:

Haer-Wigman, Lonneke ; van Zelst-Stams, Wendy AG ; Pfundt, Rolph...
European Journal of Human Genetics.  25 (2017)  5 - p. 591-599 , 2017
Link: https://doi.org/10.1038/..
 
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8

Meta-analysis of 2,104 trios provides support for 10 new ge..:

Lelieveld, Stefan H ; Reijnders, Margot R F ; Pfundt, Rolph...
Nature Neuroscience.  19 (2016)  9 - p. 1194-1196 , 2016
Link: https://doi.org/10.1038/..
 
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9

Correction: Corrigendum: Panel-based NGS Reveals Novel Path..:

Perez-Carro, Raquel ; Corton, Marta ; Sánchez-Navarro, Iker...
Scientific Reports.  6 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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10

Truncating de novo mutations in the Krüppel-type zinc-finge..:

Stevens, Servi J. C. ; van Essen, Anthonie J. ; van Ravenswaaij, Conny M. A....
Genome Medicine.  8 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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11

Panel-based NGS Reveals Novel Pathogenic Mutations in Autos..:

Perez-Carro, Raquel ; Corton, Marta ; Sánchez-Navarro, Iker...
Scientific Reports.  6 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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12

Novel bioinformatic developments for exome sequencing:

Lelieveld, Stefan H. ; Veltman, Joris A. ; Gilissen, Christian
Human Genetics.  135 (2016)  6 - p. 603-614 , 2016
Link: https://doi.org/10.1007/..
 
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13

The diagnostic yield of whole-exome sequencing targeting a ..:

Zazo Seco, Celia ; Wesdorp, Mieke ; Feenstra, Ilse...
European Journal of Human Genetics.  25 (2016)  3 - p. 308-314 , 2016
Link: https://doi.org/10.1038/..
 
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14

ConBind: motif-aware cross-species alignment for the identi..:

Lelieveld, Stefan H. ; Schütte, Judith ; Dijkstra, Maurits J.J....
Nucleic Acids Research.  44 (2015)  8 - p. e72-e72 , 2015
Link: https://doi.org/10.1093/..
 
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15

Comparison of Exome and Genome Sequencing Technologies for ..:

Lelieveld, Stefan H. ; Spielmann, Malte ; Mundlos, Stefan..
Human Mutation.  36 (2015)  8 - p. 815-822 , 2015
Link: https://doi.org/10.1002/..
 
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