E-LIB Suche - Ergebnisse für: Kaci, Alba

1

In Vitro Functional Analysis Can Aid Precision Diagnostics ..:

Pavithram, Aishwarya ; Zhang, Haichen ; Maloney, Kristin A....
The Journal of Molecular Diagnostics. 26 (2024) 6 - p. 530-541 , 2024

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

2

Functional characterization of HNF4A gene variants identify..:

Kaci, Alba ; Solheim, Marie Holm ; Silgjerd, Trine...
Human Molecular Genetics. 33 (2024) 10 - p. 894-904 , 2024

Link: https://doi.org/10.1093/..

3

A novel splice-affecting HNF1A variant with large populatio..:

Thuesen, Anne Cathrine Baun ; Stæger, Frederik Filip ; Kaci, Alba...
The Lancet Regional Health - Europe. 24 (2023) - p. 100529 , 2023

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

4

Genomic epidemiology of Streptococcus dysgalactiae subsp. e..:

Kaci, Alba ; Jonassen, Christine M. ; Skrede, Steinar...
Frontiers in Microbiology. 14 (2023) - p. , 2023

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

5

Characterisation of HNF1A variants in paediatric diabetes i..:

Svalastoga, Pernille ; Kaci, Alba ; Molnes, Janne...
Diabetologia. 66 (2023) 12 - p. 2226-2237 , 2023

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

6

Unsupervised Clustering of Missense Variants in HNF1A Using..:

Althari, Sara ; Najmi, Laeya A. ; Bennett, Amanda J....
The American Journal of Human Genetics. 107 (2020) 4 - p. 670-682 , 2020

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

7

Functional Analyses of HNF1A-MODY Variants Refine the Inter..:

Malikova, Jana ; Kaci, Alba ; Dusatkova, Petra...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 4 - p. e1377-e1386 , 2020

Link: https://doi.org/10.1210/..

8

The E3 SUMO ligase PIASγ is a novel interaction partner reg..:

Kaci, Alba ; Keindl, Magdalena ; Solheim, Marie H....
Scientific Reports. 8 (2018) 1 - p. , 2018

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

9

Characterisation of HNF1A variants in paediatric diabetes i..:

Svalastoga, Pernille ; Kaci, Alba ; Molnes, Janne...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10627920/. , 2023

Link: http://www.ncbi.nlm.nih...

10

A novel splice-affecting HNF1A variant with large populatio..:

Thuesen, Anne Cathrine ; Stæger, Fredrik Filip ; Kaci, Alba...
Thuesen, A. C. B., Stæger, F. F., Kaci, A., Solheim, M. H., Aukrust, I., Jørsboe, E., Santander, C. G., Andersen, M. K., Li, Z., Gilly, A., Stinson, S. E., Gjesing, A. P., Bjerregaard, P., Pedersen, M. L., Larsen, C. V. L., Grarup, N., Jørgensen, M. E., Zeggini, E., Bjørkhaug, L., Njølstad, P. R., Albrechtsen, A., Moltke, I., & Hansen, T. (2023). A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland. The Lancet Regional Health - Europe, 24:100529.. , 2023

Link: https://hdl.handle.net/1..

11

A novel splice-affecting HNF1A variant with large populatio..:

Thuesen, Anne Cathrine ; Stæger, Fredrik Filip ; Kaci, Alba...
urn:issn:2666-7762. , 2023

Link: https://hdl.handle.net/1..

12

Genomic epidemiology of Streptococcus dysgalactiae subsp. e..:

Kaci, Alba ; Jonassen, Christine M ; Skrede, Steinar...
urn:issn:1664-302X. , 2023

Link: https://hdl.handle.net/1..

13

Characterisation of HNF1A variants in paediatric diabetes i..:

Svalastoga, Pernille ; Kaci, Alba ; Molnes, Janne...
urn:issn:0012-186X. , 2023

Link: https://hdl.handle.net/1..

14

Characterisation of HNF1A variants in paediatric diabetes i..:

Svalastoga, Pernille ; Kaci, Alba ; Molnes, Janne...
Diabetologia. 2023, .. , 2023

Link: https://hdl.handle.net/1..

15

A novel splice-affecting HNF1A variant with large populatio..:

Thuesen, Anne Cathrine Baun ; Stæger, Frederik Filip ; Kaci, Alba...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9832271/. , 2022

Link: http://www.ncbi.nlm.nih...