E-LIB Suche - Ergebnisse für: Outi Kuismin

1

Evidence for the additivity of rare and common variant burd..:

Urpa, Lea ; Kurki, Mitja I. ; Rahikkala, Elisa...
European Journal of Human Genetics. 32 (2024) 5 - p. 576-583 , 2024

Link: https://doi.org/10.1038/..

2

XMEN disease caused by the novel MAGT1 p.(Trp136*) mutation..:

Villenheimo, Henry ; Glumoff, Virpi ; Räsänen, Sami...
Journal of Neuroimmunology. 393 (2024) - p. 578386 , 2024

Link: https://doi.org/10.1016/..

3

Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficie..:

Pernaa, Nora ; Vakkuri, Anni ; Arvonen, Miika...
Journal of Clinical Immunology. 44 (2024) 3 - p. , 2024

Link: https://doi.org/10.1007/..

4

Clinical, radiological and histopathological features of pa..:

Jaula, Hanna ; Mattila, Lauri ; Lappi-Blanco, Elisa...
Respiratory Research. 25 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

5

Hyperkinetic Movement Disorder Caused by the Recurrent c.89..:

Komulainen‐Ebrahim, Jonna ; Kangas, Salla M. ; López‐Martín, Estrella...
Movement Disorders Clinical Practice. 11 (2024) 6 - p. 708-715 , 2024

Link: https://doi.org/10.1002/..

6

Rubella virus-associated granulomas controlled with allogen..:

Hautala, Timo ; Perelygina, Ludmila ; Salmenniemi, Urpu...
Journal of Clinical Immunology. 44 (2024) 7 - p. , 2024

Link: https://doi.org/10.1007/..

7

Truncating NFKB1 variants cause combined NLRP3 inflammasome..:

Nurmi, Katariina ; Silventoinen, Kristiina ; Keskitalo, Salla...
Cell Reports Medicine. 5 (2024) 4 - p. 101503 , 2024

Link: https://doi.org/10.1016/..

8

Exome sequencing identified rare recurrent copy number vari..:

Kumpula, Timo A. ; Vorimo, Sandra ; Mattila, Taneli T....
PLOS Genetics. 19 (2023) 8 - p. e1010889 , 2023

Link: https://doi.org/10.1371/..

9

Novel patients with NHLRC2 variants expand the phenotypic s..:

Tallgren, Antti ; Kager, Leo ; O'Grady, Gina...
Frontiers in Neuroscience. 17 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

10

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther...
Genetics in Medicine. 25 (2023) 11 - p. 100950 , 2023

Link: https://doi.org/10.1016/..

11

Whole-exome sequencing reveals candidate high-risk suscepti..:

Nousiainen, Susanna ; Kuismin, Outi ; Reinikka, Siiri...
Human Genomics. 17 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

12

Inflammation and Neutrophil Oxidative Burst in a Family wit..:

Santaniemi, Wenny ; Åström, Pirjo ; Glumoff, Virpi...
Journal of Clinical Immunology. 43 (2023) 5 - p. 1007-1018 , 2023

Link: https://doi.org/10.1007/..

13

Vitamin C boosts DNA demethylation in TET2 germline mutatio..:

Taira, Aurora ; Palin, Kimmo ; Kuosmanen, Anna...
Clinical Epigenetics. 15 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

14

Long-term follow up of families with pathogenic NFKB1 varia..:

Tuovinen, Elina A. ; Kuismin, Outi ; Soikkonen, Leila...
Clinical Immunology. 246 (2023) - p. 109181 , 2023

Link: https://doi.org/10.1016/..

15

Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inheri..:

Kumpula, Timo A. ; Koivuluoma, Susanna ; Soikkonen, Leila...
Familial Cancer. 22 (2023) 3 - p. 291-294 , 2023

Link: https://doi.org/10.1007/..