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1 . Academic Journal
Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
저자
by
Nicole Revencu
;
Astrid Eijkelenboom
;
Claire Bracquemart
;
Pia Alhopuro
;
Judith Armstrong
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
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7 . Academic Journal
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
저자
by
Doriana Misceo
;
Lokuliyanage Dona Samudita Senaratne
;
Inger-Lise Mero
;
Arvind Y. M. Sundaram
;
Pål Marius Bjørnstad
, et al.
소스
Genes, Vol 14, Iss 11, p 1985 (2023)
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7 . Academic Journal
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
저자
by
Nathan L. Absalom
;
Vivian W. Y. Liao
;
Katrine M. H. Johannesen
;
Elena Gardella
;
Julia Jacobs
, et al.
소스
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
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7 . Academic Journal
Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study
저자
by
Markus K.H. Wiedmann
;
Ingunn V. Steinsvåg
;
Tovy Dinh
;
Magnus D. Vigeland
;
Pål G. Larsson
, et al.
소스
Brain and Spine, Vol 3, Iss , Pp 101745- (2023)
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7 . Academic Journal
Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.
저자
by
Inger-Lise Mero
;
Marte W Gustavsen
;
Hanne S Sæther
;
Siri T Flåm
;
Pål Berg-Hansen
, et al.
소스
PLoS ONE, Vol 8, Iss 3, p e58352 (2013)
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7 .
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
저자
by
Elin Tønne
;
Bernt Johan Due‐Tønnessen
;
Magnus Dehli Vigeland
;
Silja Svanstrøm Amundsen
;
Teodora Ribarska
, et al.
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7 .
Oligoclonal band phenotypes in MS differ in their HLA class II association, while specific KIR ligands at HLA class I show association to MS in general
저자
by
Lars Alfredsson
;
Finn Sellebjerg
;
Marte K. Viken
;
Marte Wendel Gustavsen
;
Inger-Lise Mero
, et al.
소스
Journal of Neuroimmunology
. 274:174-179
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7 .
From genes to characteristics of multiple sclerosis
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by
Inger-Lise Mero
;
Hanne F. Harbo
.
소스
Acta Neurologica Scandinavica
. 126:76-83
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4 .
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
저자
by
Per Hall
;
Simon C. Potter
;
Richard Reynolds
;
Robert Heard
;
Gil McVean
, et al.
소스
Nature
Nature; Vol 476
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7 .
Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655
저자
by
Jeppe Romme Christensen
;
Magdalena Lindén
;
Finn Sellebjerg
;
Tomas Olsson
;
Annette Bang Oturai
, et al.
소스
European Journal of Human Genetics
. 19:1100-1103
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