E-LIB Suche - Ergebnisse für: Eymard, E.

1

Clinical, genetic, epidemiologic, evolutionary, and functio..:

Adam Jackson ; Sheng-Jia Lin ; Elizabeth A. Jones...
http://www.sciencedirect.com/science/article/pii/S2666247723000180. , 2023

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

2

Dunnigan lipodystrophy syndrome: French National Diagnosis ..:

Mosbah, H ; Donadille, B ; Vatier, C...
10.1186/s13023-022-02308-7. , 2024

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

3

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..

4

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..

5

Association between prophylactic angiotensin-converting enz..:

Porcher, R ; Desguerre, I ; Amthor, H...
10.1093/eurheartj/ehab054. , 2023

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

6

Dystrophic Myopathy of the Diaphragm with Recurrent Severe ..:

Kramer, J.J ; Boon, H.T.M ; Leijten, Q.H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10041432/. , 2023

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

7

Dunnigan lipodystrophy syndrome: French National Diagnosis ..:

Mosbah, H ; Donadille, B ; Vatier, C...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s13023-022-02308-7. , 2022

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

8

Dunnigan lipodystrophy syndrome: French National Diagnosis ..:

Mosbah, H ; Donadille, B ; Vatier, C...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s13023-022-02308-7. , 2022

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

9

Dunnigan lipodystrophy syndrome: French National Diagnosis ..:

Mosbah, H ; Donadille, B ; Vatier, C...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s13023-022-02308-7. , 2022

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

10

Dunnigan lipodystrophy syndrome: French National Diagnosis ..:

Mosbah, H ; Donadille, B ; Vatier, C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019936/. , 2022

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

11

Dunnigan lipodystrophy syndrome: French National Diagnosis ..:

Mosbah, H ; Donadille, B ; Vatier, C...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s13023-022-02308-7. , 2022

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

12

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..

13

Solving patients with rare diseases through programmatic re..:

Matalonga, Leslie ; Hernández-Ferrer, Carles ; Piscia, Davide...
http://shura.shu.ac.uk/29063/. , 2021

Link: https://shura.shu.ac.uk/..

14

Solving patients with rare diseases through programmatic re..:

Sommer, Anna Katharina ; Paske, Iris Te ; Dizjikan, Farid Yavari...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-00852-7. , 2021

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

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..