E-LIB Suche - Ergebnisse für: Molnes, Janne

1

Clinical and Genetic Characteristics of Congenital Hyperins..:

Velde, Christoffer Drabløs ; Molnes, Janne ; Berland, Siren..
The Journal of Clinical Endocrinology & Metabolism. , 2024

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

2

Molecular mechanism of HNF-1A–mediated HNF4A gene regulatio..:

Kind, Laura ; Molnes, Janne ; Tjora, Erling...
JCI Insight. 9 (2024) 11 - p. , 2024

Link: https://doi.org/10.1172/..

3

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/..

4

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/..

5

Bioinformatics pipeline for the systematic mining genomic a..:

Kuznetsova, Ksenia G. ; Vašíček, Jakub ; Skiadopoulou, Dafni...
PLOS ONE. 19 (2024) 4 - p. e0300350 , 2024

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

6

The use of precision diagnostics for monogenic diabetes: a ..:

Murphy, Rinki ; Colclough, Kevin ; Pollin, Toni I....
Communications Medicine. 3 (2023) 1 - p. , 2023

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

7

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/..

8

Structural and biophysical characterization of transcriptio..:

Kind, Laura ; Raasakka, Arne ; Molnes, Janne...
Journal of Biological Chemistry. 298 (2022) 4 - p. 101803 , 2022

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

9

Two New Mutations in the CEL Gene Causing Diabetes and Here..:

El Jellas, Khadija ; Dušátková, Petra ; Haldorsen, Ingfrid S...
The Journal of Clinical Endocrinology & Metabolism. 107 (2021) 4 - p. e1455-e1466 , 2021

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

10

Maturity onset diabetes of the young type 2 (MODY2): Insigh..:

Elias-Assad, Ghadir ; Saab, Raunak ; Molnes, Janne...
Diabetes Research and Clinical Practice. 175 (2021) - p. 108791 , 2021

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

11

Impact of overweight on glucose homeostasis in MODY2 and MO..:

Romuld, Ingunn B. ; Kalleklev, Tine‐Lise ; Molnes, Janne...
Diabetic Medicine. 38 (2021) 10 - p. , 2021

Link: https://doi.org/10.1111/..

12

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/..

13

Targeted next-generation sequencing reveals MODY in up to 6..:

Johansson, Bente B. ; Irgens, Henrik U. ; Molnes, Janne...
Diabetologia. 60 (2016) 4 - p. 625-635 , 2016

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

14

GCK-MODY diabetes as a protein misfolding disease: The muta..:

Negahdar, Maria ; Aukrust, Ingvild ; Molnes, Janne...
Molecular and Cellular Endocrinology. 382 (2014) 1 - p. 55-65 , 2014

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

15

A novel GATA6 mutation in a child with congenital heart mal..:

Eifes, Serge ; Chudasama, Kishan K. ; Molnes, Janne...
Clinical Case Reports. 1 (2013) 2 - p. 86-90 , 2013

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