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Unen, Leontine
49
results:
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Online (49)
Mediatypes
Articles (Online) (15)
OpenAccess-fulltext (34)
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1
Functional Assays Combined with Pre-mRNA-Splicing Analysis ..:
Douben, Hannie
;
Hoogeveen-Westerveld, Marianne
;
Nellist, Mark
...
Human Mutation. 2023 (2023) - p. 1-14 , 2023
Link:
https://doi.org/10.1155/..
?
2
Mild TSC phenotype and non-penetrance associated with a fra..:
Farach, Laura S.
;
Northrup, Hope
;
Nellist, Mark
...
Gene. 877 (2023) - p. 147566 , 2023
Link:
https://doi.org/10.1016/..
?
3
High‐yield identification of pathogenicNF1variants by skin ..:
Douben, Hannie C. W.
;
Nellist, Mark
;
van Unen, Leontine
...
Human Mutation. 43 (2022) 12 - p. 2130-2140 , 2022
Link:
https://doi.org/10.1002/..
?
4
eP120: Predicted frameshift variant in TSC2 associated with..:
Farach, Laura
;
Au, Kit-Sing
;
Nellist, Mark
...
Genetics in Medicine. 24 (2022) 3 - p. S75-S76 , 2022
Link:
https://doi.org/10.1016/..
?
5
Variants in members of the cadherin–catenin complex, CDH1 a..:
Kievit, Anneke
;
Tessadori, Federico
;
Douben, Hannie
...
European Journal of Human Genetics. 26 (2018) 2 - p. 210-219 , 2018
Link:
https://doi.org/10.1038/..
?
6
Severe presentation of WDR62 mutation: Is there a role for ..:
Poulton, Cathryn J.
;
Schot, Rachel
;
Seufert, Katja
...
American Journal of Medical Genetics Part A. 164 (2014) 9 - p. 2161-2171 , 2014
Link:
https://doi.org/10.1002/..
?
7
Novel RNA-binding properties of the MTG chromatin regulator..:
Rossetti, Stefano
;
van Unen, Leontine
;
Sacchi, Nicoletta
.
BMC Molecular Biology. 9 (2008) 1 - p. 93 , 2008
Link:
https://doi.org/10.1186/..
?
8
Loss ofFMR1hypermethylation in somatic cell heterokaryons:
Stoyanova, Violeta
;
Rossetti, Stefano
;
Unen, Leontine
..
The FASEB Journal. 18 (2004) 15 - p. 1964-1966 , 2004
Link:
https://doi.org/10.1096/..
?
9
Heterogeneous clinical phenotypes and cerebral malformation..:
Vandervore, Laura V
;
Schot, Rachel
;
Kasteleijn, Esmee
...
Brain. 142 (2019) 4 - p. 867-884 , 2019
Link:
https://doi.org/10.1093/..
?
10
Mutated zinc finger protein of the cerebellum 1 leads to mi..:
Vandervore, Laura V.
;
Schot, Rachel
;
Hoogeboom, A. Jeannette M.
...
European Journal of Medical Genetics. 61 (2018) 12 - p. 783-789 , 2018
Link:
https://doi.org/10.1016/..
?
11
Correction: Human mutations in integrator complex subunits ..:
Oegema, Renske
;
Baillat, David
;
Schot, Rachel
...
PLOS Genetics. 13 (2017) 8 - p. e1006923 , 2017
Link:
https://doi.org/10.1371/..
?
12
Human mutations in integrator complex subunits link transcr..:
Oegema, Renske
;
Baillat, David
;
Schot, Rachel
...
PLOS Genetics. 13 (2017) 5 - p. e1006809 , 2017
Link:
https://doi.org/10.1371/..
?
13
Novel no‐stop FLNA mutation causes multi‐organ involvement ..:
Oegema, Renske
;
Hulst, Jessie M.
;
Theuns‐Valks, Sabine D.M.
...
American Journal of Medical Genetics Part A. 161 (2013) 9 - p. 2376-2384 , 2013
Link:
https://doi.org/10.1002/..
?
14
Epitope specificity of murine and human bactericidal antibo..:
Rouppe van der Voort, Eileene M.
;
Kuipers, Betsy
;
Brugghe, Humphrey F.
...
FEMS Immunology & Medical Microbiology. 17 (1997) 3 - p. 139-148 , 1997
Link:
https://doi.org/10.1111/..
?
15
Thermodynamic Analysis of the Interaction between a Bacteri..:
van den Elsen, Jean M. H.
;
van Unen, Leontine M. A.
;
van Bloois, Louis
...
Biochemistry. 36 (1997) 41 - p. 12583-12591 , 1997
Link:
https://doi.org/10.1021/..
1-15