E-LIB Suche - Ergebnisse für: Kieninger, Sinja

1

Rare differential diagnosis of an osteolytic lesion of the ..:

Shin, Hyunkyu ; Naros, Andreas ; Kieninger, Sinja...
Die Pathologie. 45 (2024) 4 - p. 284-289 , 2024

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

2

DNAJC30 disease-causing gene variants in a large Central Eu..:

Kieninger, Sinja ; Xiao, Ting ; Weisschuh, Nicole...
Journal of Medical Genetics. 59 (2022) 10 - p. 1027-1034 , 2022

Link: https://doi.org/10.1136/..

3

Mutation spectrum of the OPA1 gene in a large cohort of pat..:

Weisschuh, Nicole ; Schimpf-Linzenbold, Simone ; Mazzola, Pascale...
PLOS ONE. 16 (2021) 7 - p. e0253987 , 2021

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

4

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splic..:

Kortüm, Friederike ; Kieninger, Sinja ; Mazzola, Pascale...
International Journal of Molecular Sciences. 22 (2021) 2 - p. 850 , 2021

Link: https://doi.org/10.3390/..

5

Dominant optic atrophy: Culprit mitochondria in the optic n..:

Lenaers, Guy ; Neutzner, Albert ; Le Dantec, Yannick...
Progress in Retinal and Eye Research. 83 (2021) - p. 100935 , 2021

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

6

Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits He..:

Abbas, Seher ; Marino, Valerio ; Weisschuh, Nicole...
ACS Chemical Neuroscience. 11 (2020) 10 - p. 1458-1470 , 2020

Link: https://doi.org/10.1021/..

7

DNAJC30 disease-causing gene variants in a large Central Eu..:

Kieninger, Sinja ; Xiao, Ting ; Weisschuh, Nicole...
https://freidok.uni-freiburg.de/data/224580. , 2022

Link: https://freidok.uni-frei..

8

DNAJC30 disease-causing gene variants in a large Central Eu..:

Kieninger, Sinja ; Xiao, Ting ; Weisschuh, Nicole...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554085/. , 2022

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

9

Dominant optic atrophy: Culprit mitochondria in the optic n..:

Lenaers, Guy ; Neutzner, Albert ; Le Dantec, Yannick...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.preteyeres.2020.100935. , 2021

Link: https://hal.science/hal-..

10

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splic..:

Kortüm, Friederike ; Kieninger, Sinja ; Mazzola, Pascale...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7830253/. , 2021

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

11

Dominant optic atrophy: Culprit mitochondria in the optic n..:

Lenaers, Guy ; Neutzner, Albert ; Le Dantec, Yannick...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.preteyeres.2020.100935. , 2021

Link: https://hal.science/hal-..

12

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splic..:

Kortüm, Friederike ; Kieninger, Sinja ; Mazzola, Pascale...
https://mediatum.ub.tum.de/1689378. , 2021

Link: https://mediatum.ub.tum...

13

Dominant optic atrophy: Culprit mitochondria in the optic n..:

Lenaers, Guy ; Neutzner, Albert ; Le Dantec, Yannick...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.preteyeres.2020.100935. , 2021

Link: https://hal.science/hal-..

14

Mutation spectrum of the OPA1 gene in a large cohort of pat..:

Nicole Weisschuh ; Simone Schimpf-Linzenbold ; Pascale Mazzola...
https://doi.org/10.1371/journal.pone.0253987. , 2021

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

15

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splic..:

Friederike Kortüm ; Sinja Kieninger ; Pascale Mazzola...
Molecular Genetics and Genomics. , 2021

Link: https://doi.org/10.3390/..