I agree that this site is using cookies. You can find further informations
here
.
X
Login
My folder (
0
)
Home
About us
Home About us
Our history
Profile
Press & public relations
Friends
The library in figures
Exhibitions
Projects
Training, internships, careers
Films
Services & Information
Home Services & Information
Lending and interlibrary loans
Returns and renewals
Training and library tours
My Account
Library cards
New to the library?
Download Information
Opening hours
Learning spaces
PC, WLAN, copy, scan and print
Catalogs and collections
Home Catalogs and Collections
Rare books and manuscripts
Digital collections
Subject Areas
Our sites
Home Our sites
Central Library
Law Library (Juridicum)
BB Business and Economics (BB11)
BB Physics and Electrical Engineering
TB Engineering and Social Sciences
TB Economics and Nautical Sciences
TB Music
TB Art & Design
TB Bremerhaven
Contact the library
Home Contact the library
Staff Directory
Open access & publishing
Home Open access & publishing
Reference management: Citavi & RefWorks
Publishing documents
Open Access in Bremen
Show Desktop-Version
Toggle navigation
Eggers, Stefanie
107
results:
english X
Search for persons
X
Format
Online (107)
Mediatypes
Articles (Online) (46)
Bookchapter (Online) (1)
OpenAccess-fulltext (60)
Sorted by: Relevance
Sorted by: Year
?
1
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/..
?
2
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/..
?
3
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/..
?
4
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/..
?
5
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/..
?
6
FGF9 variant in 46,XY DSD patient suggests a role for dimer..:
Croft, Brittany
;
Bird, Anthony D.
;
Ono, Makoto
...
Clinical Genetics. 103 (2022) 3 - p. 277-287 , 2022
Link:
https://doi.org/10.1111/..
?
7
Aberrant splicing and transcriptional activity of TPP1 resu..:
Helman, Guy
;
Taylor, Lauren E.
;
Walkiewicz, Marzena
...
European Journal of Medical Genetics. 64 (2021) 8 - p. 104259 , 2021
Link:
https://doi.org/10.1016/..
?
8
The severe epilepsy syndromes of infancy: A population‐base..:
Howell, Katherine B.
;
Freeman, Jeremy L.
;
Mackay, Mark T.
...
Epilepsia. 62 (2021) 2 - p. 358-370 , 2021
Link:
https://doi.org/10.1111/..
?
9
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates b..:
van den Bergen, Jocelyn A.
;
Robevska, Gorjana
;
Eggers, Stefanie
...
Molecular Genetics & Genomic Medicine. 8 (2020) 3 - p. , 2020
Link:
https://doi.org/10.1002/..
?
10
The association between pneumococcal vaccination, ethnicity..:
Boelsen, Laura K.
;
Dunne, Eileen M.
;
Mika, Moana
...
Microbiome. 7 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1186/..
?
11
Whole exome sequencing reveals a de novo missense variant i..:
Kaur, Simranpreet
;
Van Bergen, Nicole J.
;
Gold, Wendy Anne
...
Clinical Case Reports. 7 (2019) 12 - p. 2476-2482 , 2019
Link:
https://doi.org/10.1002/..
?
12
Early diagnosis of Pearson syndrome in neonatal intensive c..:
Akesson, Lauren S.
;
Eggers, Stefanie
;
Love, Clare J.
...
European Journal of Human Genetics. 27 (2019) 12 - p. 1821-1826 , 2019
Link:
https://doi.org/10.1038/..
?
13
Rapid mitochondrial genome (MTDNA) sequencing: facilitating..:
Akesson, Lauren S.
;
Eggers, Stefanie
;
Chong, Belinda
...
Pathology. 51 (2019) - p. S118-S119 , 2019
Link:
https://doi.org/10.1016/..
?
14
A population‐based cost‐effectiveness study of early geneti..:
Howell, Katherine B.
;
Eggers, Stefanie
;
Dalziel, Kim
...
Epilepsia. 59 (2018) 6 - p. 1177-1187 , 2018
Link:
https://doi.org/10.1111/..
?
15
NR5A1gene variants repress the ovarian-specific WNT signali..:
Knarston, Ingrid M.
;
Robevska, Gorjana
;
van den Bergen, Jocelyn A
...
Human Mutation. 40 (2018) 2 - p. 207-216 , 2018
Link:
https://doi.org/10.1002/..
1-15