E-LIB Suche - Ergebnisse für: Tümer, Zeynep

1

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/. , 2024

Link: http://www.ncbi.nlm.nih...

2

CUX1-related neurodevelopmental disorder: deep insights int..:

Oppermann, Henry ; Marcos-Grañeda, Elia ; Weiss, Linnea A...
#PLACEHOLDER_PARENT_METADATA_VALUE#. , 2023

Link: http://hdl.handle.net/10..

3

Polygenic risk score-based phenome-wide association study i..:

Jain, Pritesh ; Miller-Fleming, Tyne ; Topaloudi, Apostolia...
https://research.rug.nl/en/publications/cb6f0b49-448b-4f32-bbf5-2b24d4d3625b. , 2023

Link: https://hdl.handle.net/1..

4

CUX1-related neurodevelopmental disorder: deep insights int..:

Oppermann, Henry ; Marcos-Grañeda, Elia ; Weiss, Linnea A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620399/. , 2023

Link: http://www.ncbi.nlm.nih...

5

Germline (epi)genetics reveals high predisposition in femal..:

Stoltze, Ulrik Kristoffer ; Hildonen, Mathis ; Hansen, Thomas Van Overeem...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447365/. , 2023

Link: http://www.ncbi.nlm.nih...

6

Polygenic risk score-based phenome-wide association study i..:

Jain, Pritesh ; Miller-Fleming, Tyne ; Topaloudi, Apostolia...
https://pure.au.dk/portal/da/publications/polygenic-risk-scorebased-phenomewide-association-study-identifies-novel-associations-for-tourette-syndrome(a634eb74-aebc-420e-80c5-efdd9e8f456c).html. , 2023

Link: https://pure.au.dk/porta..

7

Biochemical analysis of novel NAA10 variants suggests disti..:

McTiernan, Nina ; Tranebjærg, Lisbeth ; Bjørheim, Anna S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304055/. , 2022

Link: http://www.ncbi.nlm.nih...

8

Biallelic variants in ZNF142 lead to a syndromic neurodevel..:

Christensen, Maria B ; Levy, Amanda M ; Mohammadi, Nazanin A...
https://discovery.ucl.ac.uk/id/eprint/10149455/3/Magrinelli_Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdf. , 2022

Link: https://discovery.ucl.ac..

9

First step towards a consensus strategy for multi-locus dia..:

Mackay, Deborah ; Bliek, Jet ; Sillibourne, Julie...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s13148-022-01358-9. , 2022

Link: https://publications.rwt..

10

Enhancing neuroimaging genetics through meta-analysis for T..:

Paschou, Peristera ; Jin, Yin ; Müller-Vahl, Kirsten...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9443935/. , 2022

Link: http://www.ncbi.nlm.nih...

11

Trans-acting genetic variants causing multilocus imprinting..:

Eggermann, Thomas ; Yapici, Elzem ; Temple, I. Karen...
info:eu-repo/semantics/altIdentifier/issn/1868-7083. , 2022

Link: https://publications.rwt..

12

Trans-acting genetic variants causing multilocus imprinting..:

Eggermann, Thomas ; Yapici, Elzem ; Bliek, Jet...
https://eprints.soton.ac.uk/456159/1/MLID_variants_R1.pdf. , 2022

Link: https://eprints.soton.ac..

13

Trans-acting genetic variants causing multilocus imprinting..:

Eggermann, Thomas ; Yapici, Elzem ; Bliek, Jet...
https://ueaeprints.uea.ac.uk/id/eprint/84245/1/Published_Version.pdf. , 2022

Link: https://ueaeprints.uea.a..

14

High Resolution Analysis of DMPK Hypermethylation and Repea..:

Rasmussen, Astrid ; Hildonen, Mathis ; Vissing, John...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222588/. , 2022

Link: http://www.ncbi.nlm.nih...

15

Trans-acting genetic variants causing multilocus imprinting..:

Eggermann, Thomas ; Yapici, Elzem ; Bliek, Jet...
https://publications.aston.ac.uk/id/eprint/45869/1/T_Eggermann_et_al_Trans-acting_genetic_variants_cuasing_multilocus_imprinting_disturbance_MLID.pdf. , 2022

Link: https://publications.ast..