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
McKee, Shane
171
results:
Search for persons
X
Format
Online (171)
Mediatypes
Articles (Online) (53)
OpenAccess-fulltext (118)
Sorted by: Relevance
Sorted by: Year
?
1
MSL2 variants lead to a neurodevelopmental syndrome with la..:
Karayol, Remzi
;
Borroto, Maria Carla
;
Haghshenas, Sadegheh
...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1330-1351 , 2024
Link:
https://doi.org/10.1016/..
?
2
Prenatal genomic testing for ultrasound‐detected fetal stru..:
Reilly, Kelly
;
McKenna, Caoimhe
;
McCullough, Simon
..
The Obstetrician & Gynaecologist. 25 (2023) 2 - p. 121-130 , 2023
Link:
https://doi.org/10.1111/..
?
3
A comparison of the Netherlands, Norway and UK familial hyp..:
Page, Christopher
;
Zheng, Huiru
;
Wang, Haiying
...
PLOS Global Public Health. 3 (2023) 4 - p. e0001795 , 2023
Link:
https://doi.org/10.1371/..
?
4
Biallelic variants in CRIPT cause a Rothmund-Thomson-like s..:
Averdunk, Luisa
;
Huetzen, Maxim A.
;
Moreno-Andrés, Daniel
...
Genetics in Medicine. 25 (2023) 7 - p. 100836 , 2023
Link:
https://doi.org/10.1016/..
?
5
A clustering of heterozygous missense variants in the cruci..:
Snijders Blok, Lot
;
Verseput, Jolijn
;
Rots, Dmitrijs
...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100157 , 2023
Link:
https://doi.org/10.1016/..
?
6
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) su..:
Lines, Matthew A.
;
Goldenberg, Paula
;
Wong, Ashley
...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1667-1675 , 2022
Link:
https://doi.org/10.1002/..
?
7
SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz..:
Migliore, Chiara
;
Vendramin, Anna
;
McKee, Shane
...
Genes. 13 (2022) 2 - p. 252 , 2022
Link:
https://doi.org/10.3390/..
?
8
A Formative Study of the Implementation of Whole Genome Seq..:
Kerr, Katie
;
McKenna, Caoimhe
;
Heggarty, Shirley
...
Genes. 13 (2022) 7 - p. 1104 , 2022
Link:
https://doi.org/10.3390/..
?
9
The contribution of X-linked coding variation to severe dev..:
Martin, Hilary C.
;
Gardner, Eugene J.
;
Samocha, Kaitlin E.
...
Nature Communications. 12 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
10
Variants in GNAI1 cause a syndrome associated with variable..:
Muir, Alison M.
;
Gardner, Jennifer F.
;
van Jaarsveld, Richard H.
...
Genetics in Medicine. 23 (2021) 5 - p. 881-887 , 2021
Link:
https://doi.org/10.1038/..
?
11
Identification and validation of a novel pathogenic variant..:
Balachandar, Srimmitha
;
Graves, Tamara J.
;
Shimonty, Anika
...
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 959-964 , 2021
Link:
https://doi.org/10.1002/..
?
12
Recurrent heterozygous PAX6 missense variants cause severe ..:
Williamson, Kathleen A.
;
Hall, H. Nikki
;
Owen, Liusaidh J.
...
Genetics in Medicine. 22 (2020) 3 - p. 598-609 , 2020
Link:
https://doi.org/10.1038/..
?
13
Delineation of phenotypes and genotypes related to cohesin ..:
Krab, Lianne C.
;
Marcos-Alcalde, Iñigo
;
Assaf, Melissa
...
Human Genetics. 139 (2020) 5 - p. 575-592 , 2020
Link:
https://doi.org/10.1007/..
?
14
A scoping review and proposed workflow for multi-omic rare ..:
Kerr, Katie
;
McAneney, Helen
;
Smyth, Laura J.
...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
15
De novo and inherited TCF20 pathogenic variants are associa..:
The DDD study
;
Vetrini, Francesco
;
McKee, Shane
...
Genome Medicine. 11 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1186/..
1-15