E-LIB Suche - Ergebnisse für: Dembic, Maja

1

Regulating PCCA gene expression by modulation of pseudoexon..:

Spangsberg Petersen, Ulrika Simone ; Dembic, Maja ; Martínez-Pizarro, Ainhoa...
Molecular Therapy - Nucleic Acids. 35 (2024) 1 - p. 102101 , 2024

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

2

Candidate genes and sequence variants for susceptibility to..:

Varzari, Alexander ; Deyneko, Igor V. ; Bruun, Gitte Hoffmann...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

3

Whole exome sequencing of 28 families of Danish descent rev..:

Dembic, Maja ; van Brakel Andersen, Lars ; Larsen, Martin Jakob...
Molecular Genetics and Genomics. 298 (2022) 2 - p. 329-342 , 2022

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

4

Synchronous detection of pancreatic adenocarcinoma and para..:

Aaquist, Trine ; Dembic, Maja ; Thomassen, Mads...
Pathology - Research and Practice. 226 (2021) - p. 153590 , 2021

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

5

Next generation sequencing of RNA reveals novel targets of ..:

Dembic, Maja ; Andersen, Henriette S. ; Bastin, Jean...
Molecular Genetics and Metabolism. 126 (2019) 1 - p. 64-76 , 2019

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

6

Intronic PAH gene mutations cause a splicing defect by a no..:

Martínez-Pizarro, Ainhoa ; Dembic, Maja ; Pérez, Belén...
PLOS Genetics. 14 (2018) 4 - p. e1007360 , 2018

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

7

An intronic variation in SLC52A1 causes exon skipping and t..:

Mosegaard, Signe ; Bruun, Gitte Hoffmann ; Flyvbjerg, Karen Freund...
Molecular Genetics and Metabolism. 122 (2017) 4 - p. 182-188 , 2017

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

8

RNA-sequencing of a mouse-model of spinal muscular atrophy ..:

Doktor, Thomas Koed ; Hua, Yimin ; Andersen, Henriette Skovgaard...
Nucleic Acids Research. 45 (2016) 1 - p. 395-416 , 2016

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

9

The prevalent deep intronic c. 639 + 919 G > A GLA mutation..:

Palhais, Bruno ; Dembic, Maja ; Sabaratnam, Rugivan...
Molecular Genetics and Metabolism. 119 (2016) 3 - p. 258-269 , 2016

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

10

Cystatin B and its EPM1 mutants are polymeric and aggregate..:

Cipollini, Elena ; Riccio, Massimo ; Di Giaimo, Rossella...
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1783 (2008) 2 - p. 312-322 , 2008

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

11

Establishment and characterization of murine small cell lun..:

Carraresi, Laura ; Martinelli, Rosanna ; Vannoni, Alessandro...
Cancer Letters. 231 (2006) 1 - p. 65-73 , 2006

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

12

Intronic PAH gene mutations cause a splicing defect by a no..:

Martínez-Pizarro, Ainhoa ; Dembic, Maja ; Pérez, Belén..
PLoS Genetics. , 2023

Link: http://hdl.handle.net/10..

13

Regulating PCCA gene expression by modulation of pseudoexon..:

Spangsberg Petersen, Ulrika Simone ; Dembic, Maja ; Martínez-Pizarro, Ainhoa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10776996/. , 2023

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

14

Whole exome sequencing of 28 families of Danish descent rev..:

Dembic, Maja ; van Brakel Andersen, Lars ; Larsen, Martin Jakob...
Dembic , M , van Brakel Andersen , L , Larsen , M J , Mechlenburg , I , Søballe , K & Hertz , J M 2023 , ' Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip ' , Molecular Genetics and Genomics , vol. 298 , no. 2 , pp. 329-342 . https://doi.org/10.1007/s00438-022-01980-5. , 2023

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

15

Candidate genes and sequence variants for susceptibility to..:

Varzari, Alexander ; Deyneko, Igor V ; Bruun, Gitte Hoffmann...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9632272/. , 2022

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