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Tümer, Zeynep
370
results:
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Online (370)
Mediatypes
Articles (Online) (138)
Bookchapter (Online) (2)
OpenAccess-fulltext (230)
Languages
english (355)
Sorted by: Relevance
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?
1
Unraveling GRIA1 neurodevelopmental disorders: Lessons lear..:
Tvergaard, Nicolai Kohring
;
Tkemaladze, Tinatin
;
Stödberg, Tommy
...
Clinical Genetics. , 2024
Link:
https://doi.org/10.1111/..
?
2
Genome-Wide Association Study Points to Novel Locus for Gil..:
Tsetsos, Fotis
;
Topaloudi, Apostolia
;
Jain, Pritesh
...
Biological Psychiatry. 96 (2024) 2 - p. 114-124 , 2024
Link:
https://doi.org/10.1016/..
?
3
DNA methylation profiling in Kabuki syndrome: reclassificat..:
Niceta, Marcello
;
Ciolfi, Andrea
;
Ferilli, Marco
...
European Journal of Human Genetics. 32 (2024) 7 - p. 819-826 , 2024
Link:
https://doi.org/10.1038/..
?
4
DNA methylation signature classification of rare disorders ..:
Hildonen, Mathis
;
Ferilli, Marco
;
Hjortshøj, Tina Duelund
...
Clinical Genetics. 103 (2023) 6 - p. 688-692 , 2023
Link:
https://doi.org/10.1111/..
?
5
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome:
Bjerregaard, Victoria A.
;
Levy, Amanda M.
;
Batz, Mille S.
...
Genes. 14 (2023) 2 - p. 246 , 2023
Link:
https://doi.org/10.3390/..
?
6
Solving the unsolved genetic epilepsies: Current and future..:
Johannesen, Katrine M.
;
Tümer, Zeynep
;
Weckhuysen, Sarah
..
Epilepsia. 64 (2023) 12 - p. 3143-3154 , 2023
Link:
https://doi.org/10.1111/..
?
7
A deep intronic DLG4 variant resulting in DLG4‐related syna..:
Levy, Amanda M.
;
Ganapathi, Mythily
;
Chung, Wendy K.
.
Clinical Genetics. 105 (2023) 1 - p. 77-80 , 2023
Link:
https://doi.org/10.1111/..
?
8
Polygenic risk score-based phenome-wide association study i..:
Jain, Pritesh
;
Miller-Fleming, Tyne
;
Topaloudi, Apostolia
...
Translational Psychiatry. 13 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
9
Can polygenic risk scores help explain disease prevalence d..:
Jain, Pritesh R.
;
Burch, Myson
;
Martinez, Melanie
...
BMC Genomic Data. 24 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
10
Imprinting disorders:
Eggermann, Thomas
;
Monk, David
;
de Nanclares, Guiomar Perez
...
Nature Reviews Disease Primers. 9 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
11
Generation of eight hiPSCs lines from two pathogenic varian..:
Rivera-Sánchez, Paula
;
Søndergaard, Line
;
Wathikthinnakon, Methi
...
Stem Cell Research. 71 (2023) - p. 103193 , 2023
Link:
https://doi.org/10.1016/..
?
12
Germline (epi)genetics reveals high predisposition in femal..:
Stoltze, Ulrik Kristoffer
;
Hildonen, Mathis
;
Hansen, Thomas Van Overeem
...
Journal of Medical Genetics. 60 (2023) 9 - p. 842-849 , 2023
Link:
https://doi.org/10.1136/..
?
13
Maternal versus paternal inheritance of a 132 bp 11p15.5 mi..:
Stoltze, Ulrik Kristoffer
;
Hansen, Thomas Van Overeem
;
Brok, Jesper Sune
...
Journal of Medical Genetics. 60 (2022) 2 - p. 128-130 , 2022
Link:
https://doi.org/10.1136/..
?
14
Concordance and comorbidities among monozygotic twins with ..:
Pedersen, Julie Holst
;
Skytthe, Axel
;
Bybjerg-Grauholm, Jonas
...
Journal of Psychiatric Research. 146 (2022) - p. 297-303 , 2022
Link:
https://doi.org/10.1016/..
?
15
Trans-acting genetic variants causing multilocus imprinting..:
Eggermann, Thomas
;
Yapici, Elzem
;
Bliek, Jet
...
Clinical Epigenetics. 14 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
1-15