E-LIB Suche - Ergebnisse für: Cogné, Benjamin

1

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2024

Link: https://univ-rennes.hal...

2

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...

3

Clinical, neuroradiological and molecular characterization ..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
info:eu-repo/semantics/altIdentifier/pmid/37454282. , 2023

Link: https://hdl.handle.net/2..

4

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah ; Bryant, Laura ; Wickramasekara, Rochelle...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.ade1463. , 2023

Link: https://hal.science/hal-..

5

SpliceAI-visual: a free online tool to improve SpliceAI spl..:

de Sainte Agathe, Jean-Madeleine ; Filser, Mathilde ; Isidor, Bertrand...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s40246-023-00451-1. , 2023

Link: https://hal.science/hal-..

6

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah ; Bryant, Laura ; Wickramasekara, Rochelle...
info:eu-repo/semantics/altIdentifier/doi/10.1126/sciadv.ade1463. , 2023

Link: https://hal.science/hal-..

7

SpliceAI-visual: a free online tool to improve SpliceAI spl..:

de Sainte Agathe, Jean-Madeleine ; Filser, Mathilde ; Isidor, Bertrand...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s40246-023-00451-1. , 2023

Link: https://hal.sorbonne-uni..

8

Integrating RNA-Seq into genome sequencing workflow enhance..:

Riquin, Kevin ; Isidor, Bertrand ; Mercier, Sandra...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmg-2023-109263. , 2023

Link: https://hal.science/hal-..

9

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther...
https://research.rug.nl/en/publications/eab0ba2a-eda7-42fc-bc42-e9859dc89f35. , 2023

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

10

Stepwise use of genomics and transcriptomics technologies i..:

Colin, Estelle ; Duffourd, Yannis ; Chevarin, Martin...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fcell.2023.1021920. , 2023

Link: https://univ-rennes.hal...

11

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...

12

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...

13

Functional and clinical studies reveal pathophysiological c..:

Palmer, Elizabeth E ; Pusch, Michael ; Picollo, Alessandra...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41380-022-01852-9. , 2023

Link: https://hal.science/hal-..

14

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2023.100938. , 2023

Link: https://hal.science/hal-..

15

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01474-x. , 2023

Link: https://univ-rennes.hal...