938720 ; 537500-5
Lehr- und Forschungsgebiet Neuropädiatrie und Sozialpädiatrie Also known as:537500-5| ID | I:(DE-82)938720_20191118 |
All known publications ...
Download: BibTeX | EndNote XML, Text | RIS |
Preprint
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
48 Seiten (2024) [10.1101/2023.02.22.23286310]
Files
BibTeX |
EndNote:
XML,
Text |
RIS
Journal Article
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy
Journal of neuromuscular diseases 11(5), 1131-1137 (2024) [10.3233/JND-240050]
Files
BibTeX |
EndNote:
XML,
Text |
RIS
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 2023
European journal of human genetics 32(Supplement 1), EP10.049 (2024) special issue: "Abstracts from the 56th European Society of Human Genetics (ESHG) Conference"
Homepage of journal
BibTeX |
EndNote:
XML,
Text |
RIS
Journal Article
Different pain phenotypes are associated with anti-Caspr2 autoantibodies
Journal of neurology 271(5), 2736-2744 (2024) [10.1007/s00415-024-12224-4]
Files
BibTeX |
EndNote:
XML,
Text |
RIS
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 (2023) [10.1515/jpem-2023-0074]
BibTeX |
EndNote:
XML,
Text |
RIS
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 (2023) [10.1073/pnas.2211087120]
BibTeX |
EndNote:
XML,
Text |
RIS
Dissertation / PhD Thesis
Fetuin-A protein distribution in mature inflamed and ischemic brain tissue
Aachen : RWTH Aachen University 1 Online-Ressource : Illustrationen, Diagramme (2022) [10.18154/RWTH-2023-07257] = Dissertation, Rheinisch-Westfälische Technische Hochschule Aachen, 2022
Files
BibTeX |
EndNote:
XML,
Text |
RIS
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 (2021) [10.1024/1422-4917/a000844]
BibTeX |
EndNote:
XML,
Text |
RIS
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 (2022) [10.1002/jmv.27682]
Files
BibTeX |
EndNote:
XML,
Text |
RIS
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 (2022) [10.1016/j.seizure.2022.01.006]
Files
BibTeX |
EndNote:
XML,
Text |
RIS
All known publications ...
Download: BibTeX | EndNote XML, Text | RIS |