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
Stenton, Sarah L.
66
results:
Search for persons
X
Format
Online (66)
Mediatypes
Articles (Online) (28)
Bookchapter (Online) (1)
OpenAccess-fulltext (36)
Thesis (Online) (1)
Languages
english (56)
german (1)
Sorted by: Relevance
Sorted by: Year
?
1
P575: The Rare Genomes Project: Improving access to genomic..:
Austin-Tse, Christina
;
DiTroia, Stephanie
;
O'Leary, Melanie
...
Genetics in Medicine Open. 2 (2024) - p. 101481 , 2024
Link:
https://doi.org/10.1016/..
?
2
Digenic Leigh syndrome on the background of the m.11778G>A ..:
Blickhäuser, Beryll
;
Stenton, Sarah L
;
Neuhofer, Christiane M
...
Brain. 147 (2024) 6 - p. 1967-1974 , 2024
Link:
https://doi.org/10.1093/..
?
3
Dystonia and mitochondrial disease: the movement disorder c..:
Indelicato, Elisabetta
;
Schlieben, Lea D.
;
Stenton, Sarah L.
...
Journal of Neurology. , 2024
Link:
https://doi.org/10.1007/..
?
4
Critical assessment of variant prioritization methods for r..:
Stenton, Sarah L.
;
O'Leary, Melanie C.
;
Lemire, Gabrielle
...
Human Genomics. 18 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
5
Digenic inheritance involving a muscle-specific protein kin..:
Töpf, Ana
;
Cox, Dan
;
Zaharieva, Irina T.
...
Nature Genetics. 56 (2024) 3 - p. 395-407 , 2024
Link:
https://doi.org/10.1038/..
?
6
Narrowing the diagnostic gap: Genomes, episignatures, long-..:
Dias, Kerith-Rae
;
Shrestha, Rupendra
;
Schofield, Deborah
...
Genetics in Medicine. 26 (2024) 5 - p. 101076 , 2024
Link:
https://doi.org/10.1016/..
?
7
First-tier next-generation sequencing for newborn screening..:
Stenton, Sarah L.
;
Campagna, Madelynn
;
Philippakis, Anthony
..
Genetics in Medicine Open. 1 (2023) 1 - p. 100821 , 2023
Link:
https://doi.org/10.1016/..
?
8
Inferring compound heterozygosity from large-scale exome se..:
Guo, Michael H.
;
Francioli, Laurent C.
;
Stenton, Sarah L.
...
Nature Genetics. 56 (2023) 1 - p. 152-161 , 2023
Link:
https://doi.org/10.1038/..
?
9
The phenotypic spectrum ofCOX20-associated mitochondrial di..:
Ban, Rui
;
Kopajtich, Robert
;
Lv, Junlan
...
Brain. 145 (2022) 12 - p. e125-e127 , 2022
Link:
https://doi.org/10.1093/..
?
10
Oral Coenzyme Q10 supplementation leads to better preservat..:
Drovandi, Stefania
;
Lipska-Ziętkiewicz, Beata S.
;
Ozaltin, Fatih
...
Kidney International. 102 (2022) 3 - p. 604-612 , 2022
Link:
https://doi.org/10.1016/..
?
11
Variation of the clinical spectrum and genotype-phenotype a..:
Drovandi, Stefania
;
Lipska-Ziętkiewicz, Beata S.
;
Ozaltin, Fatih
...
Kidney International. 102 (2022) 3 - p. 592-603 , 2022
Link:
https://doi.org/10.1016/..
?
12
Genomic Approaches for the Diagnosis of Inborn Errors of Me..:
, In:
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
,
Stenton, Sarah L.
;
Mayr, Johannes A.
;
Wortmann, Saskia B.
. - p. 147-162 , 2022
Link:
https://doi.org/10.1007/..
?
13
Leigh Syndrome: A Study of 209 Patients at the Beijing Chil..:
Stenton, Sarah L.
;
Zou, Ying
;
Cheng, Hua
...
Annals of Neurology. 91 (2022) 4 - p. 466-482 , 2022
Link:
https://doi.org/10.1002/..
?
14
DNAJC30 defect: a frequent cause of recessive Leber heredit..:
Stenton, Sarah L.
;
Tesarova, Marketa
;
Sheremet, Natalia L.
...
Brain. 145 (2022) 5 - p. 1624-1631 , 2022
Link:
https://doi.org/10.1093/..
?
15
Expanding the clinical and genetic spectrum of FDXR deficie..:
Stenton, Sarah L.
;
Piekutowska‐Abramczuk, Dorota
;
Kulterer, Lea
...
Human Mutation. 42 (2021) 3 - p. 310-319 , 2021
Link:
https://doi.org/10.1002/..
1-15