Detalhe da pesquisa
1.
Et barn med langvarig anemi.
Tidsskr Nor Laegeforen
; 144(4)2024 Mar 19.
Artigo
em Norueguês
| MEDLINE | ID: mdl-38506013
2.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675510
3.
A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.
J Clin Immunol
; 42(2): 404-420, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34893945
4.
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies.
J Autoimmun
; 133: 102917, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191466
5.
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
Hum Mutat
; 42(6): 745-761, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942428
6.
Hyperferritinaemia-cataract syndrome. / Hyperferritinemi-katarakt-syndrom.
Tidsskr Nor Laegeforen
; 140(16)2020 11 10.
Artigo
em Norueguês
| MEDLINE | ID: mdl-33172243
7.
VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia.
Case Rep Hematol
; 2023: 6551544, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879894
8.
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Eur J Hum Genet
; 30(1): 95-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34645992
9.
Validation and clinical application of transactivation assays for RUNX1 variant classification.
Blood Adv
; 6(11): 3195-3200, 2022 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026845