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938720 ; 537500-5

Lehr- und Forschungsgebiet Neuropädiatrie und Sozialpädiatrie Also known as:537500-5
IDI:(DE-82)938720_20191118

RWTH Aachen

Recent Publications

All known publications ...
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http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Preprint  ;  ;  ; et al
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
48 Seiten () [10.1101/2023.02.22.23286310]  GO OpenAccess  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy
Journal of neuromuscular diseases 11(5), 1131-1137 () [10.3233/JND-240050]  GO OpenAccess  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Abstract/Journal Article/Contribution to a conference proceedings  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;
Further evidence that biallelic nonsense variants in ATL1 cause complicated hereditary spastic paraplegia
56. European Society of Human Genetics (ESHG) Conference, GlasgowGlasgow, UK, 10 Jun 2023 - 13 Jun 20232023-06-102023-06-13 European journal of human genetics 32(Supplement 1), EP10.049 () special issue: "Abstracts from the 56th European Society of Human Genetics (ESHG) Conference"  GO   Download fulltextHomepage of journal BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ; et al
Different pain phenotypes are associated with anti-Caspr2 autoantibodies
Journal of neurology 271(5), 2736-2744 () [10.1007/s00415-024-12224-4]  GO OpenAccess  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ;  ;  ;  ;  ;  ;
Neuropathy in paediatric type 1 diabetes mellitus – clinical characterization and analysis of risk factors in the diabetes prospective follow-up registry DPV (Diabetes-Patienten-Verlaufsdokumentation)-registry
The journal of pediatric endocrinology and metabolism 36(7), 628-635 () [10.1515/jpem-2023-0074]  GO BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy
Proceedings of the National Academy of Sciences of the United States of America 120(22), 1-11 () [10.1073/pnas.2211087120]  GO BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Dissertation / PhD Thesis  ;  ;
Fetuin-A protein distribution in mature inflamed and ischemic brain tissue
Aachen : RWTH Aachen University 1 Online-Ressource : Illustrationen, Diagramme () [10.18154/RWTH-2023-07257] = Dissertation, Rheinisch-Westfälische Technische Hochschule Aachen, 2022  GO OpenAccess  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article (Review Article)  ;  ;
School Entry Plays an Insignificant Role in Attention Performance, Impulse Control, and Motor Activity of Same-Aged Children from Preschool and Elementary School
Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie 51(2), 93-104 () [10.1024/1422-4917/a000844]  GO BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;
The SARS-CoV-2 pandemic in Germany may represent the sum of a large number of local but independent epidemics each initiated by individuals aged 10–19 years, middle-aged males, or elderly individuals
Journal of medical virology 94(7), 3087-3095 () [10.1002/jmv.27682]  GO OpenAccess  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ;  ;  ;  ;  ;  ;  ;
New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES) of unknown aetiology: A comparison of the incomparable?
Seizure 96, 18-21 () [10.1016/j.seizure.2022.01.006]  GO OpenAccess  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

All known publications ...
Download: BibTeX | EndNote XML,  Text | RIS | 


 Record created 2019-11-18, last modified 2022-11-30



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