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
Alsaif, Hessa S.
127
results:
Search for persons
X
Format
Online (127)
Mediatypes
Articles (Online) (84)
OpenAccess-fulltext (43)
Sorted by: Relevance
Sorted by: Year
?
1
KIF26A is mutated in the syndrome of congenital hydrocephal..:
Almannai, Mohammed
;
AlAbdi, Lama
;
Maddirevula, Sateesh
...
Human Genetics. 142 (2022) 3 - p. 399-405 , 2022
Link:
https://doi.org/10.1007/..
?
2
Biallelic UBE4A loss-of-function variants cause intellectua..:
Melo, Uirá Souto
;
Bonner, Devon
;
Kent Lloyd, Kevin C.
...
Genetics in Medicine. 23 (2021) 4 - p. 661-668 , 2021
Link:
https://doi.org/10.1038/..
?
3
The recurrent missense mutation p.(Arg367Trp) in YARS1 caus..:
Averdunk, Luisa
;
Sticht, Heinrich
;
Surowy, Harald
...
Journal of Molecular Medicine. 99 (2021) 12 - p. 1755-1768 , 2021
Link:
https://doi.org/10.1007/..
?
4
Biallelic and monoallelic variants in PLXNA1 are implicated..:
Dworschak, Gabriel C.
;
Punetha, Jaya
;
Kalanithy, Jeshurun C.
...
Genetics in Medicine. 23 (2021) 9 - p. 1715-1725 , 2021
Link:
https://doi.org/10.1038/..
?
5
Bi-allelic loss-of-function variants in BCAS3 cause a syndr..:
Hengel, Holger
;
Hannan, Shabab B.
;
Dyack, Sarah
...
The American Journal of Human Genetics. 108 (2021) 6 - p. 1069-1082 , 2021
Link:
https://doi.org/10.1016/..
?
6
Biallelic variants in SLC38A3 encoding a glutamine transpor..:
Marafi, Dana
;
Fatih, Jawid M
;
Kaiyrzhanov, Rauan
...
Brain. 145 (2021) 3 - p. 909-924 , 2021
Link:
https://doi.org/10.1093/..
?
7
ZNF668 deficiency causes a recognizable disorder of DNA dam..:
Alsaif, Hessa S.
;
Al Ali, Hatoon
;
Faqeih, Eissa
...
Human Genetics. 140 (2021) 9 - p. 1395-1401 , 2021
Link:
https://doi.org/10.1007/..
?
8
Correction to: The recurrent missense mutation p.(Arg367Trp..:
Averdunk, Luisa
;
Sticht, Heinrich
;
Surowy, Harald
...
Journal of Molecular Medicine. 99 (2021) 12 - p. 1769-1770 , 2021
Link:
https://doi.org/10.1007/..
?
9
MYH1 is a candidate gene for recurrent rhabdomyolysis in hu..:
Alsaif, Hessa S.
;
Alshehri, Ali
;
Sulaiman, Raashda A.
...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2131-2135 , 2021
Link:
https://doi.org/10.1002/..
?
10
Lethal variants in humans: lessons learned from a large mol..:
Shamseldin, Hanan E.
;
AlAbdi, Lama
;
Maddirevula, Sateesh
...
Genome Medicine. 13 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
11
Missense NAA20 variantsimpairing the NatB protein N-termina..:
Morrison, Jennifer
;
Altuwaijri, Norah K.
;
Brønstad, Kirsten
...
Genetics in Medicine. 23 (2021) 11 - p. 2213-2218 , 2021
Link:
https://doi.org/10.1038/..
?
12
A de novo mutation in FMR1 in a patient with intellectual d..:
Maddirevula, Sateesh
;
Alsaif, Hessa S.
;
Ibrahim, Niema
.
European Journal of Medical Genetics. 63 (2020) 3 - p. 103763 , 2020
Link:
https://doi.org/10.1016/..
?
13
KDM5A mutations identified in autism spectrum disorder usin..:
El Hayek, Lauretta
;
Tuncay, Islam Oguz
;
Nijem, Nadine
...
eLife. 9 (2020) - p. , 2020
Link:
https://doi.org/10.7554/..
?
14
Biallelic MFSD2A variants associated with congenital microc..:
Scala, Marcello
;
Chua, Geok Lin
;
Chin, Cheen Fei
...
European Journal of Human Genetics. 28 (2020) 11 - p. 1509-1519 , 2020
Link:
https://doi.org/10.1038/..
?
15
Analysis of transcript-deleterious variants in Mendelian di..:
Maddirevula, Sateesh
;
Kuwahara, Hiroyuki
;
Ewida, Nour
...
Genome Biology. 21 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
1-15