Wedell A

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Family name Wedell
Given name Anna
Initials A
ORCID

ORCID 0000-0002-2612-6301
Affiliations Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden
Centre for Inherited Metabolic Diseases Karolinska University Hospital Stockholm Sweden
Science for Life Laboratory Karolinska Institutet Stockholm Sweden

3 publications

PubMed DOI Crossref
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Rasi C, Nilsson D, Magnusson M, ..., Wirta V, Stranneheim H
Hum. Mutat. 43 (6) 708-716 [2022-06-00; online 2022-03-07]
Clinical Genomics Stockholm [Technology development]
PubMed DOI Crossref
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Stödberg T, Tomson T, Barbaro M, ..., Åmark P, Wedell A
Epilepsia 61 (11) 2486-2499 [2020-11-00; online 2020-09-23]
Clinical Genomics Stockholm [Service]
PubMed DOI Crossref
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham E, Eklund EA, Hammarsjö A, ..., Nishimura G, Grigelioniene G
Eur J Hum Genet 24 (2) 198-207 [2016-02-00; online 2015-05-13]
Clinical Genomics Stockholm
SciLifeLab Data Centre
Publications 9.5.0