E-LIB Suche - Ergebnisse für: Besnard, T. (Thomas)

1

Pathogenic variants in KMT2C result in a neurodevelopmental..:

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor...
The American Journal of Human Genetics. , 2024

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

2

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/..

3

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/..

4

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/..

5

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Q ; Motta, M ; Gautier, T...
https://discovery.ucl.ac.uk/id/eprint/10158009/1/1-s2.0-S0002929722003603-main.pdf. , 2022

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

6

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

Bryant, L ; Li, D ; Cox, S.G...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.abc9207. , 2020

Link: https://push-zb.helmholt..

7

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

Bryant L ; Li D ; Cox S. G...
info:eu-repo/semantics/altIdentifier/pmid/33268356. , 2020

Link: http://hdl.handle.net/23..

8

PSMC3 proteasome subunit variants are associated with neuro..:

Ebstein, Frédéric ; Küry, Sébastien ; Most, Victoria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506367/. , 2023

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

9

Germline variants in tumor suppressor FBXW7 lead to impaire..:

Stephenson, Sarah E.M ; Costain, Gregory ; Blok, Laura E.R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069070/. , 2022

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

10

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

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas...
https://eprints.soton.ac.uk/469160/1/K_ry_GIM_WNK3_Main_text_Clean_07_05_2022.pdf. , 2022

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

11

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

Bryant, Laura ; Li, Dong ; Cox, Samuel G...
qt6fw0s88w. , 2020

Link: https://escholarship.org..

12

Impairment of the mitochondrial one-carbon metabolism enzym..:

García-Cazorla, Àngels ; Verdura, Edgard ; Juliá-Palacios, Natalia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7665968/. , 2020

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

13

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

Bryant, Laura ; Li, Dong ; Cox, Samuel G...
Science advances. , 2020

Link: https://ddd.uab.cat/reco..

14

Impairment of the mitochondrial one-carbon metabolism enzym..:

García Cazorla, Àngels ; Verdura, Edgard ; Juliá Palacios, Natalia...
Reproducció del document publicat a: https://doi.org/10.1007/s00401-020-02223-w. , 2020

Link: http://hdl.handle.net/24..

15

Missense Variants in the Histone Acetyltransferase Complex ..:

Cogné, Benjamin ; Ehresmann, Sophie ; Beauregard-Lacroix, Eliane...
qt4cf0w8wv. , 2019

Link: https://escholarship.org..