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Den Dunnen, Johan T.
481
results:
Search for persons
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Online (481)
Mediatypes
Articles (Online) (261)
Bookchapter (Online) (10)
OpenAccess-fulltext (210)
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?
1
Hematologically important mutations: Leukocyte adhesion def..:
Roos, Dirk
;
van Leeuwen, Karin
;
Madkaikar, Manisha
...
Blood Cells, Molecules, and Diseases. 99 (2023) - p. 102726 , 2023
Link:
https://doi.org/10.1016/..
?
2
ACO2 clinicobiological dataset with extensive phenotype ont..:
Guehlouz, Khadidja
;
Foulonneau, Thomas
;
Amati-Bonneau, Patrizia
...
Scientific Data. 8 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
3
The Role of the European Society of Human Genetics in Deliv..:
Tobias, Edward S.
;
Avram, Elena
;
Calapod, Patricia
...
Frontiers in Genetics. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
4
The LOVD3 platform: efficient genome-wide sharing of geneti..:
Fokkema, Ivo F.A.C.
;
Kroon, Mark
;
López Hernández, Julia A.
...
European Journal of Human Genetics. 29 (2021) 12 - p. 1796-1803 , 2021
Link:
https://doi.org/10.1038/..
?
5
General considerations:
, In:
Clinical DNA Variant Interpretation
,
Fokkema, Ivo F.A.C.
;
den Dunnen, Johan T.
- p. 9-27 , 2021
Link:
https://doi.org/10.1016/..
?
6
A Case Series of Familial ARID1B Variants Illustrating Vari..:
van der Sluijs, Pleuntje J.
;
Alders, Mariëlle
;
Dingemans, Alexander J. M.
...
Genes. 12 (2021) 8 - p. 1275 , 2021
Link:
https://doi.org/10.3390/..
?
7
New locus underlying auriculocondylar syndrome (ARCND): 430..:
Romanelli Tavares, Vanessa Luiza
;
Guimarães-Ramos, Sofia Ligia
;
Zhou, Yan
...
Journal of Medical Genetics. 59 (2021) 9 - p. 895-905 , 2021
Link:
https://doi.org/10.1136/..
?
8
Contributors:
, In:
Clinical DNA Variant Interpretation
,
Alves, Ana Catarina
;
Austin-Tse, Christina Anne
;
Bourbon, Mafalda
... - p. xvii-xxi , 2021
Link:
https://doi.org/10.1016/..
?
9
Newborn screening of duchenne muscular dystrophy specifical..:
Beckers, Pablo
;
Caberg, Jean-Hubert
;
Dideberg, Vinciane
...
Scientific Reports. 11 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
10
Data sharing and gene variant databases:
, In:
Clinical DNA Variant Interpretation
,
den Dunnen, Johan T.
;
Fokkema, Ivo F.A.C.
- p. 221-236 , 2021
Link:
https://doi.org/10.1016/..
?
11
Integrating Whole-Genome Sequencing in Clinical Genetics: A..:
Gonçalves, Ana
;
Fortuna, Ana
;
Ariyurek, Yavuz
...
International Journal of Molecular Sciences. 23 (2021) 1 - p. 59 , 2021
Link:
https://doi.org/10.3390/..
?
12
Mutalyzer 2: next generation HGVS nomenclature checker:
Lefter, Mihai
;
Vis, Jonathan K
;
Vermaat, Martijn
...
Bioinformatics. 37 (2021) 18 - p. 2811-2817 , 2021
Link:
https://doi.org/10.1093/..
?
13
Stepwise ABC system for classification of any type of genet..:
Houge, Gunnar
;
Laner, Andreas
;
Cirak, Sebahattin
...
European Journal of Human Genetics. 30 (2021) 2 - p. 150-159 , 2021
Link:
https://doi.org/10.1038/..
?
14
Using Personal Genomic Data within Primary Care: A Bioinfor..:
Overkleeft, Rick
;
Tommel, Judith
;
Evers, Andrea W. M.
...
Genes. 11 (2020) 12 - p. 1443 , 2020
Link:
https://doi.org/10.3390/..
?
15
Templated Insertions: A Smoking Gun for Polymerase Theta-Me..:
Schimmel, Joost
;
van Schendel, Robin
;
den Dunnen, Johan T.
.
Trends in Genetics. 35 (2019) 9 - p. 632-644 , 2019
Link:
https://doi.org/10.1016/..
1-15