E-LIB Suche - Ergebnisse für: Peters, Sophia

1

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S ; Michener, Sydney L ; Pan, Hongling...
https://discovery.ucl.ac.uk/id/eprint/10188776/1/A%20syndromic%20neurodevelopmental%20disorder%20caused%20by%20rare%20variants%20in%20PPFIA3.pdf. , 2024

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

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: https://orbilu.uni.lu/ha..

3

Twist exome capture allows for lower average sequence cover..:

Yaldiz, Burcu ; Kucuk, Erdi ; Hampstead, Juliet...
info:eu-repo/semantics/altIdentifier/pmid/37138343. , 2023

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

4

Correction to: Solving patients with rare diseases through ..:

Matalonga, Leslie ; Hernández-Ferrer, Carles ; Piscia, Davide...
https://cris.maastrichtuniversity.nl/en/publications/b81df7a2-e2cf-4111-bb76-63ce10123bcf. , 2021

Link: https://cris.maastrichtu..

5

Solving unsolved rare neurological diseases—a Solve-RD view..:

Schüle, Rebecca ; Timmann, Dagmar ; Erasmus, Corrie E...
http://shura.shu.ac.uk/29062/. , 2021

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

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 unsolved rare neurological diseases—a Solve-RD view..:

Schüle, Rebecca ; Timmann, Dagmar ; Erasmus, Corrie...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-00901-1. , 2021

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

8

TBK1 and TNFRSF13B mutations and an autoinflammatory diseas..:

Schmidt, Axel ; Peters, Sophia ; Knaus, Alexej...
https://repository.publisso.de/resource/frl:6442494. , 2021

Link: https://repository.publi..

9

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..

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 ; 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 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..