E-LIB Suche - Ergebnisse für: Bak, Mads

1

Novel biallelic PISD missense variants cause spondyloepimet..:

Aagaard Nolting, Line ; Holling, Tess ; Nishimura, Gen...
Clinical Genetics. , 2024

2

Novel Alu insertion in the ZEB2 gene causing Mowat‐Wilson s..:

Barington, Maria ; Bak, Mads ; Kjartansdóttir, Kristín Rós...
American Journal of Medical Genetics Part A. 194 (2024) 8 - p. , 2024

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

3

Clinical features and genotype–phenotype correlations in ep..:

Cuccurullo, Claudia ; Cerulli Irelli, Emanuele ; Ugga, Lorenzo...
Epilepsia. , 2024

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

4

TINF2 is a major susceptibility gene in Danish patients wit..:

Jensen, Marlene Richter ; Jelsig, Anne Marie ; Gerdes, Anne-Marie...
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100225 , 2023

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

5

DNA methylation signature classification of rare disorders ..:

Hildonen, Mathis ; Ferilli, Marco ; Hjortshøj, Tina Duelund...
Clinical Genetics. 103 (2023) 6 - p. 688-692 , 2023

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

6

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/..

7

Genetic predisposition and evolutionary traces of pediatric..:

Stoltze, Ulrik Kristoffer ; Foss-Skiftesvik, Jon ; van Overeem Hansen, Thomas...
Neuro-Oncology. 25 (2023) 4 - p. 761-773 , 2023

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

8

A family with ulcerative colitis maps to 7p21.1 and compris..:

Eiberg, Hans ; Olsson, Josephine B. ; Bak, Mads...
European Journal of Human Genetics. 31 (2023) 12 - p. 1440-1446 , 2023

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

9

DNA methylation episignature in Gabriele-de Vries syndrome:

Cherik, Florian ; Reilly, Jack ; Kerkhof, Jennifer...
Genetics in Medicine. 24 (2022) 4 - p. 905-914 , 2022

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

10

Identification and analysis of deletion breakpoints in four..:

Rendtorff, Nanna Dahl ; Karstensen, Helena Gásdal ; Lodahl, Marianne...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

11

Correction: Integrative analysis of genomic variants reveal..:

Audain, Enrique ; Wilsdon, Anna ; Breckpot, Jeroen...
PLOS Genetics. 17 (2021) 9 - p. e1009809 , 2021

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

12

Integrative analysis of genomic variants reveals new associ..:

Audain, Enrique ; Wilsdon, Anna ; Breckpot, Jeroen...
PLOS Genetics. 17 (2021) 7 - p. e1009679 , 2021

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

13

Case report: 'AARS2 leukodystrophy':

Axelsen, Tobias Melton ; Vammen, Tzvetelina Lubenova ; Bak, Mads...
Molecular Genetics and Metabolism Reports. 28 (2021) - p. 100782 , 2021

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

14

Mitochondrial dysfunction induced by variation in the non-c..:

du Mee, Dorine Jeanne Mariëtte ; Bak, Mads ; Østergaard, Elsebet.
Mitochondrion. 53 (2020) - p. 255-259 , 2020

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

15

Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Cau..:

Bech, Sara ; Løkkegaard, Annemette ; Nielsen, Troels T....
Movement Disorders. 35 (2020) 12 - p. 2343-2347 , 2020

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