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Arve Vøllo
Observed names:
Arve Vollo,
Vollo, Arve,
Vøllo, Arve
Institution:
Østfold Hospital Trust
Observed institutions:
Odense University Hospital,
Østfold Hospital Trust
OpenAlex ID:
A5086760370
Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications
2021
·
Katrine M Johannesen
, Yuanyuan Liu
, et al.
·
Brain
·
144
PDF
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
2020
·
Laura Bryant
, Dong Li
, et al.
·
Science Advances
·
96
PDF
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
2016
·
Bobby G. Ng
, Sergey A. Shiryaev
, et al.
·
Human Mutation
·
59
PDF
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
2022
·
Johannesen, Katrine M
, Liu, Yuanyuan
, et al.
·
Kölner Universitäts PublikationsServer (Universität zu Köln)
·
23
Abstracts
2021
·
Johannesen, Katrine Marie
, Liu, Yuanyuan
, et al.
·
Epilepsia
·
14
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
2023
·
Zelha Nil
, Ashish R. Deshwar
, et al.
·
The American Journal of Human Genetics
·
13
PDF
Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP
2020
·
Katherine C. MacKenzie
, Bianca M. Graaf
, et al.
·
Human Mutation
·
13
PDF
Neuromuscular disorders in children in South-Eastern Norway
2015
·
Knut Risberg
, Arve Vøllo
, et al.
·
Journal of Pediatric Neurology
·
11
Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation
2023
·
An N. Dang Do
, Irene J. Chang
, et al.
·
Journal of Inherited Metabolic Disease
·
9
PDF
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Works count:
9
Citation count:
382
H-index:
9
I10-index:
8
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