E-LIB Suche - Ergebnisse für: Jane Hübertz Frederiksen

1

Survival, surveillance, and genetics in patients with Peutz..:

Jelsig, Anne Marie ; van Overeem Hansen, Thomas ; Gede, Lene Bjerring...
Clinical Genetics. 104 (2023) 1 - p. 81-89 , 2023

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

2

The effect of a single SMARCA4 exon deletion on RNA splicin..:

Byrjalsen, Anna ; Stoltze, Ulrik ; Mehrjouy, Mana...
Molecular Genetics & Genomic Medicine. 11 (2023) 10 - p. , 2023

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

3

Identification of a novel pathogenic deep intronic variant ..:

Jelsig, Anne Marie ; Rønlund, Karina ; Gede, Lene Bjerring...
Journal of Human Genetics. 68 (2023) 10 - p. 721-724 , 2023

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

4

A rare missense variant in APC interrupts splicing and caus..:

Djursby, Malene ; Wadt, Karin ; Frederiksen, Jane Hübertz...
Hereditary Cancer in Clinical Practice. 18 (2020) 1 - p. , 2020

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

5

The effect of a single SMARCA4 exon deletion on RNA splicin..:

Anna Byrjalsen ; Ulrik Stoltze ; Mana Mehrjouy...
https://doi.org/10.1002/mgg3.2232. , 2023

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

6

A rare missense variant in APC interrupts splicing and caus..:

Malene Djursby ; Karin Wadt ; Jane Hübertz Frederiksen...
http://link.springer.com/article/10.1186/s13053-020-00140-3. , 2020

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

7

Survival, surveillance, and genetics in patients with Peutz..:

Jelsig, Anne Marie ; van Overeem Hansen, Thomas ; Gede, Lene Bjerring...
Jelsig , A M , van Overeem Hansen , T , Gede , L B , Qvist , N , Christensen , L-L , Lautrup , C K , Frederiksen , J H , Sunde , L , Ousager , L B , Ljungmann , K , Bertelsen , B & Karstensen , J G 2023 , ' Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome : A nationwide study ' , Clinical Genetics , vol. 104 , no. 1 , pp. 81-89 . https://doi.org/10.1111/cge.14337. , 2023

Link: https://pure.au.dk/porta..

8

The effect of a single SMARCA4 exon deletion on RNA splicin..:

Byrjalsen, Anna ; Stoltze, Ulrik ; Mehrjouy, Mana...
https://pure.au.dk/portal/da/publications/the-effect-of-a-single-smarca4-exon-deletion-on-rna-splicing(7867f671-3933-4d83-a7ed-51ec95fbcd8a).html. , 2023

Link: https://pure.au.dk/porta..

9

Survival, surveillance, and genetics in patients with Peutz..:

Jelsig, Anne Marie ; van Overeem Hansen, Thomas ; Gede, Lene Bjerring...
https://vbn.aau.dk/da/publications/0767f777-bece-440f-9cc9-d9e53d80de93. , 2023

Link: https://vbn.aau.dk/da/pu..

10

The effect of a single SMARCA4 exon deletion on RNA splicin..:

Byrjalsen, Anna ; Stoltze, Ulrik ; Mehrjouy, Mana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568377/. , 2023

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

11

A rare missense variant in APC interrupts splicing and caus..:

Djursby, Malene ; Wadt, Karin ; Frederiksen, Jane Hübertz...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140378/. , 2020

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