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
Pagnamenta, Alistair T
266
results:
Search for persons
X
Format
Online (266)
Mediatypes
Articles (Online) (86)
OpenAccess-fulltext (179)
Video (Online) (1)
Sorted by: Relevance
Sorted by: Year
?
1
The impact of inversions across 33,924 families with rare d..:
Pagnamenta, Alistair T.
;
Yu, Jing
;
Walker, Susan
...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1140-1164 , 2024
Link:
https://doi.org/10.1016/..
?
2
RTN2 deficiency results in an autosomal recessive distal mo..:
Maroofian, Reza
;
Sarraf, Payam
;
O'Brien, Thomas J
...
Brain. 147 (2024) 7 - p. 2334-2343 , 2024
Link:
https://doi.org/10.1093/..
?
3
Biallelic NAA60 variants with impaired N-terminal acetylati..:
Chelban, Viorica
;
Aksnes, Henriette
;
Maroofian, Reza
...
Nature Communications. 15 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
4
AMFR dysfunction causes autosomal recessive spastic paraple..:
Deng, Ruizhi
;
Medico-Salsench, Eva
;
Nikoncuk, Anita
...
Acta Neuropathologica. 146 (2023) 2 - p. 353-368 , 2023
Link:
https://doi.org/10.1007/..
?
5
A Palindrome-Like Structure on 16p13.3 Is Associated with t..:
Pagnamenta, Alistair T.
;
Yu, Jing
;
Willis, Tracey A.
...
Human Mutation. 2023 (2023) - p. 1-9 , 2023
Link:
https://doi.org/10.1155/..
?
6
Biallelic NUDT2 variants defective in mRNA decapping cause ..:
Husain, Ralf A
;
Jiao, Xinfu
;
Hennings, J Christopher
...
Brain. 147 (2023) 4 - p. 1197-1205 , 2023
Link:
https://doi.org/10.1093/..
?
7
Genome sequencing identifies KMT2E‐disrupting cryptic struc..:
Hashim, Mona
;
Stewart, Helen
;
Yu, Jing
...
Clinical Genetics. 104 (2023) 3 - p. 390-392 , 2023
Link:
https://doi.org/10.1111/..
?
8
Brain monoamine vesicular transport disease caused by homoz..:
Saida, Ken
;
Maroofian, Reza
;
Sengoku, Toru
...
Genetics in Medicine. 25 (2023) 1 - p. 90-102 , 2023
Link:
https://doi.org/10.1016/..
?
9
Pure cerebellar ataxia due to bi‐allelic PRDX3 variants inc..:
Efthymiou, Stephanie
;
Novis, Luiz E.
;
Koutsis, Georgios
...
Annals of Clinical and Translational Neurology. 10 (2023) 10 - p. 1910-1916 , 2023
Link:
https://doi.org/10.1002/..
?
10
Structural and non-coding variants increase the diagnostic ..:
Pagnamenta, Alistair T.
;
Camps, Carme
;
Giacopuzzi, Edoardo
...
Genome Medicine. 15 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
11
Biallelic variants in PIGN cause Fryns syndrome, multiple c..:
Loong, Lucy
;
Tardivo, Agostina
;
Knaus, Alexej
...
Genetics in Medicine. 25 (2023) 1 - p. 37-48 , 2023
Link:
https://doi.org/10.1016/..
?
12
The prevalence and phenotypic range associated with biallel..:
Pagnamenta, Alistair T.
;
Belles, Rebecca S.
;
Salbert, Bonnie Anne
...
Clinical Genetics. 104 (2023) 1 - p. 121-126 , 2023
Link:
https://doi.org/10.1111/..
?
13
Use of genome sequencing to hunt for cryptic second-hit var..:
Moore, A Rachel
;
Yu, Jing
;
Pei, Yang
...
Journal of Medical Genetics. 60 (2023) 12 - p. 1235-1244 , 2023
Link:
https://doi.org/10.1136/..
?
14
CUX1-related neurodevelopmental disorder: deep insights int..:
Oppermann, Henry
;
Marcos-Grañeda, Elia
;
Weiss, Linnea A.
...
European Journal of Human Genetics. 31 (2023) 11 - p. 1251-1260 , 2023
Link:
https://doi.org/10.1038/..
?
15
Lunapark deficiency leads to an autosomal recessive neurode..:
Accogli, Andrea
;
Zaki, Maha S
;
Al-Owain, Mohammed
...
Brain Communications. , 2023
Link:
https://doi.org/10.1093/..
1-15