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Cohen, Enzo
69
results:
Search for persons
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Format
Online (69)
Mediatypes
Articles (Online) (17)
Bookchapter (Online) (3)
OpenAccess-fulltext (49)
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english (60)
french (3)
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1
Genome-wide variant calling in reanalysis of exome sequenci..:
de Boer, Elke
;
Yaldiz, Burcu
;
Denommé-Pichon, Anne-Sophie
...
European Journal of Medical Genetics. 65 (2022) 1 - p. 104402 , 2022
Link:
https://doi.org/10.1016/..
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2
The 2022 version of the gene table of neuromuscular disorde..:
Cohen, Enzo
;
Bonne, Gisèle
;
Rivier, François
.
Neuromuscular Disorders. 31 (2021) 12 - p. 1313-1357 , 2021
Link:
https://doi.org/10.1016/..
?
3
Neuropathie motrice et expansion ancestrale dans le gène VW..:
Cohen, Enzo
Les Cahiers de Myologie. , 2021
Link:
https://doi.org/10.1051/..
?
4
Preclinical Advances of Therapies for Laminopathies:
Benarroch, Louise
;
Cohen, Enzo
;
Atalaia, Antonio
...
Journal of Clinical Medicine. 10 (2021) 21 - p. 4834 , 2021
Link:
https://doi.org/10.3390/..
?
5
Correction to: Solving patients with rare diseases through ..:
Matalonga, Leslie
;
Hernández-Ferrer, Carles
;
Piscia, Davide
...
European Journal of Human Genetics. 29 (2021) 9 - p. 1466-1469 , 2021
Link:
https://doi.org/10.1038/..
?
6
Correction: A MT-TL1 variant identified by whole exome sequ..:
de Boer, Elke
;
Ockeloen, Charlotte W.
;
Matalonga, Leslie
...
European Journal of Human Genetics. 29 (2021) 9 - p. 1470-1471 , 2021
Link:
https://doi.org/10.1038/..
?
7
A MT-TL1 variant identified by whole exome sequencing in an..:
de Boer, Elke
;
Ockeloen, Charlotte W.
;
Matalonga, Leslie
...
European Journal of Human Genetics. 29 (2021) 9 - p. 1359-1368 , 2021
Link:
https://doi.org/10.1038/..
?
8
Solving patients with rare diseases through programmatic re..:
Matalonga, Leslie
;
Hernández-Ferrer, Carles
;
Piscia, Davide
...
European Journal of Human Genetics. 29 (2021) 9 - p. 1337-1347 , 2021
Link:
https://doi.org/10.1038/..
?
9
Exome reanalysis and proteomic profiling identified TRIP4 a..:
Töpf, Ana
;
Pyle, Angela
;
Griffin, Helen
...
European Journal of Human Genetics. 29 (2021) 9 - p. 1348-1353 , 2021
Link:
https://doi.org/10.1038/..
?
10
Contribution of LHX4 Mutations to Pituitary Deficits in a C..:
Cohen, Enzo
;
Maghnie, Mohamad
;
Collot, Nathalie
...
The Journal of Clinical Endocrinology & Metabolism. 102 (2016) 1 - p. 290-301 , 2016
Link:
https://doi.org/10.1210/..
?
11
A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:
Denommé-Pichon, Anne-Sophie
;
Matalonga, Leslie
;
de Boer, Elke
...
https://doi.org/10.1016/j.gim.2023.100018. , 2023
Link:
http://orbilu.uni.lu/han..
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12
Twist exome capture allows for lower average sequence cover..:
Yaldiz, Burcu
;
Kucuk, Erdi
;
Hampstead, Juliet
...
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5. , 2023
Link:
http://orbilu.uni.lu/han..
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13
The 2022 version of the gene table of neuromuscular disorde..:
Cohen, Enzo
;
Bonne, Gisèle
;
Rivier, Francois
.
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.nmd.2021.11.004. , 2021
Link:
https://hal.science/hal-..
?
14
Solve-RD: systematic pan-European data sharing and collabor..:
Zurek, Birte
;
Ellwanger, Kornelia
;
Ossowski, Stephan
...
info:eu-repo/semantics/altIdentifier/pmid/pmid:34075208. , 2021
Link:
https://pub.dzne.de/reco..
?
15
Solving unsolved rare neurological diseases—a Solve-RD view..:
Timmann, Dagmar
;
Erasmus, Corrie E
;
Reichbauer, Jennifer
...
https://repository.publisso.de/resource/frl:6442786. , 2021
Link:
https://repository.publi..
1-15