E-LIB Suche - Ergebnisse für: Küry, S. (Sébastien)

1

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B..:

Küry, S. (Sébastien) ; Woerden, G.M. (Geeske) van ; Besnard, T. (Thomas)...
http://repub.eur.nl/pub/102880. , 2017

Link: http://repub.eur.nl/pub/..

2

Genome-wide interaction study of dietary intake of fibre, f..:

Papadimitriou, Nikos ; Kim, Andre ; Kawaguchi, Eric S....
eBioMedicine. 104 (2024) - p. 105146 , 2024

Link: https://doi.org/10.1016/..

3

Bi-allelic variants in DOHH, catalyzing the last step of hy..:

Ziegler, Alban ; Steindl, Katharina ; Hanner, Ashleigh S....
The American Journal of Human Genetics. 109 (2022) 8 - p. 1549-1558 , 2022

Link: https://doi.org/10.1016/..

4

Rare pathogenic variants in WNK3 cause X-linked intellectua..:

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas...
Genetics in Medicine. 24 (2022) 9 - p. 1941-1951 , 2022

Link: https://doi.org/10.1016/..

5

Rare germline heterozygous missense variants in BRCA1-assoc..:

Küry, Sébastien ; Ebstein, Frédéric ; Mollé, Alice...
The American Journal of Human Genetics. 109 (2022) 2 - p. 361-372 , 2022

Link: https://doi.org/10.1016/..

6

Comprehensive study of 28 individuals with SIN3A-related di..:

Balasubramanian, Meena ; Dingemans, Alexander J. M. ; Albaba, Shadi...
European Journal of Human Genetics. 29 (2021) 4 - p. 625-636 , 2021

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

7

Comprehensive study of 28 individuals with SIN3A-related di..:

Balasubramanian, M. (Meena) ; Dingemans, A.J.M. (Alexander J. M.) ; Albaba, S. (Shadi)...
http://repub.eur.nl/pub/134409. , 2021

Link: http://repub.eur.nl/pub/..

8

Genotypic diversity and phenotypic spectrum of infantile li..:

Lenz, Dominic ; Smith, Desirée E.C. ; Crushell, Ellen...
Genetics in Medicine. 22 (2020) 11 - p. 1863-1873 , 2020

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

9

Histone H3.3 beyond cancer: Germline mutations in Histone 3..:

Bryant, L. (Laura) ; Li, D. (Dong) ; Cox, S.G. (Samuel G.)...
http://repub.eur.nl/pub/132337. , 2020

Link: http://repub.eur.nl/pub/..

10

Pathogenic variants in USP7 cause a neurodevelopmental diso..:

Fountain, Michael D. ; Oleson, David S. ; Rech, Megan E....
Genetics in Medicine. 21 (2019) 8 - p. 1797-1807 , 2019

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

11

Identification of shared genetic variants between schizophr..:

Zuber, Verena ; Jönsson, Erik G. ; Frei, Oleksandr...
Scientific Reports. 8 (2018) 1 - p. , 2018

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

12

The intellectual disability-associated CAMK2G p.Arg292Pro m..:

Proietti-Onori, M. (Martina) ; Koopal, B. (Balwina) ; Everman, D.B. (David B.)...
http://repub.eur.nl/pub/110437. , 2018

Link: http://repub.eur.nl/pub/..

13

De Novo and Inherited Loss-of-Function Variants in TLK2: Cl..:

Reijnders, M.R.F. (Margot R.F.) ; Miller, K.A. (Kerry A.) ; Alvi, M. (Mohsan)...
http://repub.eur.nl/pub/107127. , 2018

Link: http://repub.eur.nl/pub/..

14

Lessons learned from additional research analyses of unsolv..:

Eldomery, Mohammad K. ; Coban-Akdemir, Zeynep ; Harel, Tamar...
Genome Medicine. 9 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

15

Rare and low-frequency coding variants alter human adult he..:

Marouli, E. (Eirini) ; Graff, M.J. (Maud J.L.) ; Medina-Gomez, C. (Carolina)...
http://repub.eur.nl/pub/98029. , 2017

Link: http://repub.eur.nl/pub/..