E-LIB Suche - Ergebnisse für: Szklarczyk, Radek

1

Mutations in PDLIM5 are rare in dilated cardiomyopathy but ..:

Verdonschot, Job A. J. ; Robinson, Emma L. ; James, Kiely N....
Molecular Genetics & Genomic Medicine. 8 (2019) 2 - p. , 2019

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

2

Whole Exome Sequencing Is the Preferred Strategy to Identif..:

Theunissen, Tom E. J. ; Nguyen, Minh ; Kamps, Rick...
Frontiers in Genetics. 9 (2018) - p. , 2018

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

3

Genetic defects in mtDNA-encoded protein translation cause ..:

Kamps, Rick ; Szklarczyk, Radek ; Theunissen, Tom E....
European Journal of Human Genetics. 26 (2018) 4 - p. 537-551 , 2018

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

4

Selection and Characterization of Palmitic Acid Responsive ..:

Theunissen, Tom E. J. ; Gerards, Mike ; Hellebrekers, Debby M. E. I....
Frontiers in Molecular Neuroscience. 10 (2017) - p. , 2017

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

5

A comprehensive strategy for exome-based preconception carr..:

Sallevelt, Suzanne C.E.H. ; de Koning, Bart ; Szklarczyk, Radek...
Genetics in Medicine. 19 (2017) 5 - p. 583-592 , 2017

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

6

Rapid Resolution of Blended or Composite Multigenic Disease..:

Theunissen, Tom E.J. ; Sallevelt, Suzanne C.E.H. ; Hellebrekers, Debby M.E.I....
The Journal of Pediatrics. 182 (2017) - p. 371-374.e2 , 2017

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

7

A homozygousFITM2mutation causes a deafness-dystonia syndro..:

Seco, Celia Zazo ; Castells-Nobau, Anna ; Joo, Seol-hee...
Disease Models & Mechanisms. , 2016

Link: https://doi.org/10.1242/..

8

Specific MRI Abnormalities Reveal Severe Perrault Syndrome ..:

Theunissen, Tom E. J. ; Szklarczyk, Radek ; Gerards, Mike...
Frontiers in Neurology. 7 (2016) - p. , 2016

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

9

Transcriptome analysis of complex I-deficient patients reve..:

van der Lee, Robin ; Szklarczyk, Radek ; Smeitink, Jan...
BMC Genomics. 16 (2015) 1 - p. , 2015

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

10

WeGET: predicting new genes for molecular systems by weight..:

Szklarczyk, Radek ; Megchelenbrink, Wout ; Cizek, Pavel...
Nucleic Acids Research. 44 (2015) D1 - p. D567-D573 , 2015

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

11

Integrative Genomics-Based Discovery of Novel Regulators of..:

van der Lee, Robin ; Feng, Qian ; Langereis, Martijn A....
PLOS Computational Biology. 11 (2015) 10 - p. e1004553 , 2015

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

12

Olfactory receptor genes cooperate with protocadherin genes..:

Mariman, Edwin C. M. ; Szklarczyk, Radek ; Bouwman, Freek G....
Genes & Nutrition. 10 (2015) 4 - p. , 2015

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

13

A mutation in the human CBP4 ortholog UQCC3 impairs complex..:

Wanschers, Bas F.J. ; Szklarczyk, Radek ; van den Brand, Mariël A.M....
Human Molecular Genetics. 23 (2014) 23 - p. 6356-6365 , 2014

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

14

Control of mitochondrial integrity in ageing and disease:

Szklarczyk, Radek ; Nooteboom, Marco ; Osiewacz, Heinz D.
Philosophical Transactions: Biological Sciences. 369 (2014) 1646 - p. 1-18 , 2014

Link: https://www.jstor.org/st..

15

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Hu..:

Tucker, Elena J. ; Wanschers, Bas F. J. ; Szklarczyk, Radek...
PLoS Genetics. 9 (2013) 12 - p. e1004034 , 2013

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