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Van de Vondel, Liedewei
16
results:
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1
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..
?
2
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..
?
3
De novo and dominantly inherited SPTAN1 mutations cause Spa..:
Van de Vondel, Liedewei
;
De Winter, Jonathan
;
Beijer, Danique
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9232883/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
4
Commentary: SPTBN5, encoding the βV-spectrin protein, leads..:
Van De Vondel, Liedewei
;
De Winter, Jonathan
;
Baets, Jonathan
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552555/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
5
A Recurrent KPNA3 Missense Variant Causing Infantile Pure S..:
De Winter, Jonathan
;
Van de Vondel, Liedewei
;
Züchner, Stephan
..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10049798/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
6
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..
?
7
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/..
?
8
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..
?
9
Solve-RD: systematic pan-European data sharing and collabor..:
Zurek, Birte
;
Ellwanger, Kornelia
;
Vissers, Lisenka E. L. M
...
http://shura.shu.ac.uk/29064/. , 2021
Link:
https://shura.shu.ac.uk/..
?
10
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..
?
11
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..
?
12
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..
?
13
Solving patients with rare diseases through programmatic re..:
Matalonga, Leslie
;
Hernández-Ferrer, Carles
;
DITF-ITHACA, Solve-RD
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-00852-7. , 2021
Link:
https://pub.dzne.de/reco..
?
14
Solve-RD: systematic pan-European data sharing and collabor..:
Vissers, Lisenka
;
Schüle, Rebecca
;
Synofzik, Matthis
...
https://repository.publisso.de/resource/frl:6442778. , 2021
Link:
https://repository.publi..
?
15
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..
1-15