E-LIB Suche - Ergebnisse für: Löhner, Katharina

1

Epigenotype–genotype–phenotype correlations in SETD1A and S..:

Lee, Sunwoo ; Menzies, Lara ; Hay, Eleanor...
Human Molecular Genetics. 32 (2023) 22 - p. 3123-3134 , 2023

Link: https://doi.org/10.1093/..

2

The phenotypic spectrum and genotype-phenotype correlations..:

Dingemans, Alexander J. M. ; Truijen, Kim M. G. ; van de Ven, Sam...
Translational Psychiatry. 12 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

3

TAB2 deletions and variants cause a highly recognisable syn..:

Engwerda, Aafke ; Leenders, Erika K. S. M. ; Frentz, Barbara...
European Journal of Human Genetics. 29 (2021) 11 - p. 1669-1676 , 2021

Link: https://doi.org/10.1038/..

4

Etiological diagnosis in limb reduction defects and the num..:

Bergman, Jorieke E. H. ; Löhner, Katharina ; van der Sluis, Corry K...
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 2909-2918 , 2020

Link: https://doi.org/10.1002/..

5

Genotype–phenotype correlation at codon 1740 ofSETD2:

Rabin, Rachel ; Radmanesh, Alireza ; Glass, Ian A....
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2037-2048 , 2020

Link: https://doi.org/10.1002/..

6

Meta-analysis of 2,104 trios provides support for 10 new ge..:

Lelieveld, Stefan H ; Reijnders, Margot R F ; Pfundt, Rolph...
Nature Neuroscience. 19 (2016) 9 - p. 1194-1196 , 2016

Link: https://doi.org/10.1038/..

7

Epigenotype-genotype-phenotype correlations in SETD1A and S..:

Lee, Sunwoo ; Menzies, Lara ; Hay, Eleanor...
https://publications.aston.ac.uk/id/eprint/45860/1/Sunwoo_Lee_et_al_Epigenotype-genotype-phenotype_correlations_in_SETD1A_and_SETD2_chromatin_disorders.pdf. , 2023

Link: https://publications.ast..

8

Epigenotype-genotype–phenotype correlations in SETD1A and S..:

Lee, Sunwoo ; Menzies, Lara ; Hay, Eleanor...
https://pure.qub.ac.uk/en/publications/014520af-7473-4b96-a0ec-b5d7ef52b6f4. , 2023

Link: https://pure.qub.ac.uk/e..

9

The phenotypic spectrum and genotype-phenotype correlations..:

Dingemans, Alexander J.M ; Truijen, Kim M.G ; van de Ven, Sam...
https://research.vu.nl/en/publications/94642a93-a0ec-4860-bb87-63ae494b1ac7. , 2022

Link: https://research.vu.nl/e..

10

The phenotypic spectrum and genotype-phenotype correlations..:

Dingemans, Alexander J. M ; Truijen, Kim M. G ; van de Ven, Sam...
https://research.vumc.nl/en/publications/22a848df-4c29-4603-8ce3-fac2536381a8. , 2022

Link: https://research.vumc.nl..

11

The phenotypic spectrum and genotype-phenotype correlations..:

Dingemans, Alexander J.M ; Truijen, Kim M.G ; van de Ven, Sam...
https://pure.eur.nl/en/publications/0654806d-84cd-47c5-a4c6-26a2280892d6. , 2022

Link: https://pure.eur.nl/en/p..

12

The phenotypic spectrum and genotype-phenotype correlations..:

Dingemans, Alexander J. M ; Truijen, Kim M. G ; van de Ven, Sam...
https://research.vumc.nl/en/publications/22a848df-4c29-4603-8ce3-fac2536381a8. , 2022

Link: https://research.vumc.nl..

13