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Tümer, Zeynep
370  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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