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
Hempel, Maja
79
results:
Articles (Online) X
Search for persons
X
Languages
english (76)
german (1)
Sorted by: Relevance
Sorted by: Year
?
1
Fatty acid synthesis suppresses dietary polyunsaturated fat..:
Worthmann, Anna
;
Ridder, Julius
;
Piel, Sharlaine Y. L.
...
Nature Communications. 15 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
2
A combination of long and short read genomics reveals frequ..:
Schuy, Jakob
;
Sæther, Kristine Bilgrav
;
Lisfeld, Jasmin
...
Genetics in Medicine Open. , 2024
Link:
https://doi.org/10.1016/..
?
3
Impact of genetic and non-genetic factors on phenotypic div..:
Hammann, Nicole
;
Lenz, Dominic
;
Baric, Ivo
...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108118 , 2024
Link:
https://doi.org/10.1016/..
?
4
European Autism GEnomics Registry (EAGER): protocol for a m..:
Bloomfield, Madeleine
;
Lautarescu, Alexandra
;
Heraty, Síofra
...
BMJ Open. 14 (2024) 6 - p. e080746 , 2024
Link:
https://doi.org/10.1136/..
?
5
Comparative analysis of gene and disease selection in genom..:
Betzler, Isabel R.
;
Hempel, Maja
;
Mütze, Ulrike
...
Journal of Inherited Metabolic Disease. , 2024
Link:
https://doi.org/10.1002/..
?
6
Biallelic loss-of-function variants of SLC12A9 cause lysoso..:
Accogli, Andrea
;
Park, Young N.
;
Lenk, Guy M.
...
Genetics in Medicine. 26 (2024) 5 - p. 101097 , 2024
Link:
https://doi.org/10.1016/..
?
7
De novo PHF5A variants are associated with craniofacial abn..:
Harms, Frederike L.
;
Dingemans, Alexander J.M.
;
Hempel, Maja
...
Genetics in Medicine. 25 (2023) 11 - p. 100964 , 2023
Link:
https://doi.org/10.1016/..
?
8
The clinical and molecular spectrum of the KDM6B-related ne..:
Rots, Dmitrijs
;
Jakub, Taryn E.
;
Keung, Crystal
...
The American Journal of Human Genetics. 110 (2023) 6 - p. 963-978 , 2023
Link:
https://doi.org/10.1016/..
?
9
Genotype-phenotype correlations in RHOBTB2-associated neuro..:
Langhammer, Franziska
;
Maroofian, Reza
;
Badar, Rueda
...
Genetics in Medicine. 25 (2023) 8 - p. 100885 , 2023
Link:
https://doi.org/10.1016/..
?
10
Expanding the phenotypic and biochemical spectrum of NDUFAF..:
van der Ven, Amelie T.
;
Cabrera-Orefice, Alfredo
;
Wente, Isabell
...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107675 , 2023
Link:
https://doi.org/10.1016/..
?
11
De novo PHF5A variants are associated with craniofacial abn..:
Harms, Frederike L.
;
Dingemans, Alexander J.M.
;
Hempel, Maja
...
Genetics in Medicine. 25 (2023) 10 - p. 100927 , 2023
Link:
https://doi.org/10.1016/..
?
12
AXIN1 bi-allelic variants disrupting the C-terminal DIX dom..:
Terhal, Paulien
;
Venhuizen, Anton J.
;
Lessel, Davor
...
The American Journal of Human Genetics. 110 (2023) 9 - p. 1470-1481 , 2023
Link:
https://doi.org/10.1016/..
?
13
Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:
Kaiyrzhanov, Rauan
;
Rad, Aboulfazl
;
Lin, Sheng-Jia
...
Brain. 147 (2023) 4 - p. 1436-1456 , 2023
Link:
https://doi.org/10.1093/..
?
14
Biallelic CACNA2D1 loss-of-function variants cause early-on..:
Dahimene, Shehrazade
;
von Elsner, Leonie
;
Holling, Tess
...
Brain. 145 (2022) 8 - p. 2721-2729 , 2022
Link:
https://doi.org/10.1093/..
?
15
Genetic Variation in LRP1 Associates with Stanford Type B A..:
Erhart, Philipp
;
Körfer, Daniel
;
Grond-Ginsbach, Caspar
...
Journal of Cardiovascular Development and Disease. 9 (2022) 1 - p. 14 , 2022
Link:
https://doi.org/10.3390/..
1-15