E-LIB Suche - Ergebnisse für: Eisenberger, Tobias

1

The ciliary transition zone protein TMEM218 synergistically..:

Epting, Daniel ; Decker, Eva ; Ott, Elisabeth...
Human Molecular Genetics. 31 (2022) 14 - p. 2295-2306 , 2022

2

Progressive liver, kidney, and heart degeneration in childr..:

Devane, John ; Ott, Elisabeth ; Olinger, Eric G....
The American Journal of Human Genetics. 109 (2022) 5 - p. 928-943 , 2022

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

3

Clinical and genetic characteristics of 251 consecutive pat..:

Birtel, Johannes ; Eisenberger, Tobias ; Gliem, Martin...
Scientific Reports. 8 (2018) 1 - p. , 2018

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

4

A C-terminal nonsense mutation links PTPRQ with autosomal-d..:

Eisenberger, Tobias ; Di Donato, Nataliya ; Decker, Christian...
Genetics in Medicine. 20 (2018) 6 - p. 614-621 , 2018

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

5

Next-generation sequencing identifies unexpected genotype-p..:

Birtel, Johannes ; Gliem, Martin ; Mangold, Elisabeth...
PLOS ONE. 13 (2018) 12 - p. e0207958 , 2018

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

6

Next-generation sequencing reveals the mutational landscape..:

Neuhaus, Christine ; Eisenberger, Tobias ; Decker, Christian...
Molecular Genetics & Genomic Medicine. 5 (2017) 5 - p. 531-552 , 2017

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

7

An Efficient and Comprehensive Strategy for Genetic Diagnos..:

Eisenberger, Tobias ; Decker, Christian ; Hiersche, Milan...
PLOS ONE. 10 (2015) 2 - p. e0116680 , 2015

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

8

FP049AN EFFICIENT AND COMPREHENSIVE STRATEGY FOR GENETIC DI..:

Eisenberger, Tobias ; Decker, Christian ; Hiersche, Milan...
Nephrology Dialysis Transplantation. 30 (2015) suppl_3 - p. iii81-iii81 , 2015

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

9

OSBPL2 encodes a protein of inner and outer hair cell stere..:

Thoenes, Michaela ; Zimmermann, Ulrike ; Ebermann, Inga...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

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

10

Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy:

Beck, Bodo B. ; Phillips, Jennifer B. ; Bartram, Malte P....
Human Mutation. 35 (2014) 10 - p. 1153-1162 , 2014

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

11

Targeted and Genomewide NGS Data Disqualify Mutations inMYO..:

Eisenberger, Tobias ; Di Donato, Nataliya ; Baig, Shahid M....
Human Mutation. 35 (2014) 5 - p. 565-570 , 2014

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

12

Mutations in WDR19 encoding the intraflagellar transport co..:

Fehrenbach, Henry ; Decker, Christian ; Eisenberger, Tobias...
Pediatric Nephrology. 29 (2014) 8 - p. 1451-1456 , 2014

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

13

Mutations in NEK8 link multiple organ dysplasia with altere..:

Frank, Valeska ; Habbig, Sandra ; Bartram, Malte P....
Human Molecular Genetics. 22 (2013) 11 - p. 2177-2185 , 2013

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

14

ANKS6 is a central component of a nephronophthisis module l..:

Hoff, Sylvia ; Halbritter, Jan ; Epting, Daniel...
Nature Genetics. 45 (2013) 8 - p. 951-956 , 2013

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

15

Increasing the Yield in Targeted Next-Generation Sequencing..:

Eisenberger, Tobias ; Neuhaus, Christine ; Khan, Arif O....
PLoS ONE. 8 (2013) 11 - p. e78496 , 2013

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