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
Jasper J. van der Smagt, MD
49
results:
Search for persons
X
Format
Online (49)
Mediatypes
Articles (Online) (48)
OpenAccess-fulltext (1)
Sorted by: Relevance
Sorted by: Year
?
1
Juvenile interleukin-36 receptor antagonist deficiency (DIT..:
Edwin Cuperus, MD
;
Rosanne Koevoets, MD, PhD
;
Jasper J. van der Smagt, MD
...
http://www.sciencedirect.com/science/article/pii/S2352512617302047. , 2018
Link:
https://doi.org/10.1016/..
?
2
Loss-of-function of activity-dependent neuroprotective prot..:
D'Incal, Claudio Peter
;
Annear, Dale John
;
Elinck, Ellen
...
European Journal of Human Genetics. 32 (2024) 6 - p. 630-638 , 2024
Link:
https://doi.org/10.1038/..
?
3
Diagnostic utility and reporting recommendations for clinic..:
Kerkhof, Jennifer
;
Rastin, Cassandra
;
Levy, Michael A.
...
Genetics in Medicine. 26 (2024) 5 - p. 101075 , 2024
Link:
https://doi.org/10.1016/..
?
4
Identification of a pathogenic deep intronic variant in ATR..:
van der Smagt, Jasper J.
;
Lampri, Angeliki P.
;
de Lange, Iris
...
European Journal of Medical Genetics. 69 (2024) - p. 104949 , 2024
Link:
https://doi.org/10.1016/..
?
5
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/..
?
6
Neurodevelopmental and other phenotypes recurrently associa..:
Sewani, Soha
;
Azamian, Mahshid S.
;
Mendelsohn, Bryce A.
...
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023
Link:
https://doi.org/10.1002/..
?
7
DNA methylation episignature and comparative epigenomic pro..:
Rooney, Kathleen
;
van der Laan, Liselot
;
Trajkova, Slavica
...
Genetics in Medicine. 25 (2023) 8 - p. 100871 , 2023
Link:
https://doi.org/10.1016/..
?
8
De novo missense variants in phosphatidylinositol kinase PI..:
Morleo, Manuela
;
Venditti, Rossella
;
Theodorou, Evangelos
...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1377-1393 , 2023
Link:
https://doi.org/10.1016/..
?
9
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/..
?
10
Persistent Müllerian duct syndrome associated with genetic ..:
Picard, Jean-Yves
;
Morin, Gilles
;
Devouassoux-Shisheboran, Mojgan
...
Human Reproduction. 37 (2022) 12 - p. 2952-2959 , 2022
Link:
https://doi.org/10.1093/..
?
11
Loss-of-function variants in SRRM2 cause a neurodevelopment..:
Cuinat, Silvestre
;
Nizon, Mathilde
;
Isidor, Bertrand
...
Genetics in Medicine. 24 (2022) 8 - p. 1774-1780 , 2022
Link:
https://doi.org/10.1016/..
?
12
Genetic testing in interstitial lung disease: An internatio..:
Terwiel, Michelle
;
Borie, Raphael
;
Crestani, Bruno
...
Respirology. 27 (2022) 9 - p. 747-757 , 2022
Link:
https://doi.org/10.1111/..
?
13
Reclassification of a likely pathogenic Dutch founder varia..:
Copier, Jaël S
;
Bootsma, Marianne
;
Ng, Chai A
...
Human Molecular Genetics. 32 (2022) 7 - p. 1072-1082 , 2022
Link:
https://doi.org/10.1093/..
?
14
Telomere dysfunction implicates POT1 in patients with idiop..:
Kelich, Joseph
;
Aramburu, Tomas
;
van der Vis, Joanne J.
...
Journal of Experimental Medicine. 219 (2022) 5 - p. , 2022
Link:
https://doi.org/10.1084/..
?
15
Expanding the genotype and phenotype spectrum of SYT1-assoc..:
Melland, Holly
;
Bumbak, Fabian
;
Kolesnik-Taylor, Anna
...
Genetics in Medicine. 24 (2022) 4 - p. 880-893 , 2022
Link:
https://doi.org/10.1016/..
1-15