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Koelling, Nils
45
results:
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Online (45)
Mediatypes
Articles (Online) (13)
OpenAccess-fulltext (32)
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1
Personalized recurrence risk assessment following the birth..:
Bernkopf, Marie
;
Abdullah, Ummi B.
;
Bush, Stephen J.
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
2
The developing mouse coronal suture at single-cell resoluti..:
Farmer, D'Juan T.
;
Mlcochova, Hana
;
Zhou, Yan
...
Nature Communications. 12 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
3
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin s..:
Nabais Sá, Maria J
;
Miller, Kerry A
;
McQuaid, Mary
...
Journal of Medical Genetics. 59 (2021) 8 - p. 776-780 , 2021
Link:
https://doi.org/10.1136/..
?
4
SMAD6 variants in craniosynostosis: genotype and phenotype ..:
Calpena, Eduardo
;
Cuellar, Araceli
;
Bala, Krithi
...
Genetics in Medicine. 22 (2020) 9 - p. 1498-1506 , 2020
Link:
https://doi.org/10.1038/..
?
5
amplimap: a versatile tool to process and analyze targeted ..:
Koelling, Nils
;
Bernkopf, Marie
;
Calpena, Eduardo
...
Bioinformatics. 36 (2020) 8 - p. 2643-2643 , 2020
Link:
https://doi.org/10.1093/..
?
6
Correction: SMAD6 variants in craniosynostosis: genotype an..:
Calpena, Eduardo
;
Cuellar, Araceli
;
Bala, Krithi
...
Genetics in Medicine. 22 (2020) 9 - p. 1567 , 2020
Link:
https://doi.org/10.1038/..
?
7
A de novo substitution in BCL11B leads to loss of interacti..:
Goos, Jacqueline A C
;
Vogel, Walter K
;
Mlcochova, Hana
...
Human Molecular Genetics. 28 (2019) 15 - p. 2501-2513 , 2019
Link:
https://doi.org/10.1093/..
?
8
The impact of chemo- and radiotherapy treatments on selfish..:
Maher, Geoffrey J
;
Bernkopf, Marie
;
Koelling, Nils
...
Human Reproduction. 34 (2019) 8 - p. 1404-1415 , 2019
Link:
https://doi.org/10.1093/..
?
9
amplimap: a versatile tool to process and analyze targeted ..:
Koelling, Nils
;
Bernkopf, Marie
;
Calpena, Eduardo
...
Bioinformatics. 35 (2019) 24 - p. 5349-5350 , 2019
Link:
https://doi.org/10.1093/..
?
10
Selfish mutations dysregulating RAS-MAPK signaling are perv..:
Maher, Geoffrey J.
;
Ralph, Hannah K.
;
Ding, Zhihao
...
Genome Research. 28 (2018) 12 - p. 1779-1790 , 2018
Link:
https://doi.org/10.1101/..
?
11
Disruption ofTWIST1translation by 5′ UTR variants in Saethr..:
Zhou, Yan
;
Koelling, Nils
;
Fenwick, Aimée L.
...
Human Mutation. 39 (2018) 10 - p. 1360-1365 , 2018
Link:
https://doi.org/10.1002/..
?
12
Quantification of transmission risk in a male patient with ..:
Bernkopf, Marie
;
Hunt, David
;
Koelling, Nils
...
Human Mutation. 38 (2017) 10 - p. 1360-1364 , 2017
Link:
https://doi.org/10.1002/..
?
13
Genetic variants regulating expression levels and isoform d..:
Cannavò, Enrico
;
Koelling, Nils
;
Harnett, Dermot
...
Nature. 541 (2016) 7637 - p. 402-406 , 2016
Link:
https://doi.org/10.1038/..
?
14
Personalized recurrence risk assessment following the birth..:
Bernkopf, Marie
;
Abdullah, Ummi B
;
Bush, Stephen J
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932158/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
15
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin s..:
Nabais Sá, Maria J
;
Miller, Kerry A
;
McQuaid, Mary
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340002/. , 2022
Link:
http://www.ncbi.nlm.nih...
1-15