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Eggers, Stefanie
116
results:
Search for persons
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Format
Online (115)
Print (1)
Mediatypes
Articles (Online) (48)
Bookchapter (Online) (2)
Bookchapter (Print) (1)
OpenAccess-fulltext (65)
Languages
german (3)
english (107)
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Sorted by: Relevance
?
1
A Short Progressive Supranuclear Palsy Quality of Life Scal:
Jensen, Ida
;
Stiel, Stephanie
;
Bebermeier, Sarah
...
Movement Disorders. , 2024
Link:
https://doi.org/10.1002/..
?
2
Prospective cohort study of genomic newborn screening: Baby..:
Lunke, Sebastian
;
Bouffler, Sophie E
;
Downie, Lilian
...
BMJ Open. 14 (2024) 4 - p. e081426 , 2024
Link:
https://doi.org/10.1136/..
?
3
Contributors:
, In:
Risk-Informed Methods and Applications in Nuclear and Energy Engineering
,
Aagesen, Larry K.
;
Aldemir, Tunc
;
Alfonsi, A.
... - p. xi-xiii , 2024
Link:
https://doi.org/10.1016/..
?
4
The cost of proband and trio exome and genome analysis in r..:
Mordaunt, Dylan A.
;
Gonzalez, Francisco Santos
;
Lunke, Sebastian
...
Genetics in Medicine. 26 (2024) 4 - p. 101058 , 2024
Link:
https://doi.org/10.1016/..
?
5
A highly conserved tRNA modification contributes toC. albic..:
Böttcher, Bettina
;
Kienast, Sandra D.
;
Leufken, Johannes
...
Microbiology Spectrum. 12 (2024) 5 - p. , 2024
Link:
https://doi.org/10.1128/..
?
6
Author Correction: Variants in SART3 cause a spliceosomopat..:
Ayers, Katie L.
;
Eggers, Stefanie
;
Rollo, Ben N.
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
7
Integrated multi-omics for rapid rare disease diagnosis on ..:
Lunke, Sebastian
;
Bouffler, Sophie E.
;
Patel, Chirag V.
...
Nature Medicine. 29 (2023) 7 - p. 1681-1691 , 2023
Link:
https://doi.org/10.1038/..
?
8
A Case Report of Parainfectious Opsoclonus-Myoclonus Syndro..:
Syc-Mazurek, Stephanie
;
Santilli, Ashley
;
Hass, Reece
...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023
Link:
https://doi.org/10.1212/..
?
9
Variants in SART3 cause a spliceosomopathy characterised by..:
Ayers, Katie L.
;
Eggers, Stefanie
;
Rollo, Ben N.
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
10
Variants in SART3 cause a spliceosomopathy characterised by..:
Ayers, Katie
;
Eggers, Stefanie
;
Rollo, Ben
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-39040-0. , 2023
Link:
https://hal.science/hal-..
?
11
Variants in SART3 cause a spliceosomopathy characterised by..:
Ayers, Katie L
;
Eggers, Stefanie
;
Rollo, Ben N
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256788/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
12
Variants in SART3 cause a spliceosomopathy characterised by..:
Ayers, Katie
;
Eggers, Stefanie
;
Rollo, Ben
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-39040-0. , 2023
Link:
https://hal.science/hal-..
?
13
Variants in SART3 cause a spliceosomopathy characterised by..:
Ayers, Katie
;
Eggers, Stefanie
;
Rollo, Ben
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-39040-0. , 2023
Link:
https://hal.science/hal-..
?
14
Variants in SART3 cause a spliceosomopathy characterised by..:
Ayers, Katie
;
Eggers, Stefanie
;
Rollo, Ben
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-39040-0. , 2023
Link:
https://hal.science/hal-..
?
15
Variants in SART3 cause a spliceosomopathy characterised by..:
Ayers, Katie
;
Eggers, Stefanie
;
Rollo, Ben
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-39040-0. , 2023
Link:
https://hal.science/hal-..
1-15
