E-LIB Suche - Ergebnisse für: Mazzola, Pascale

1

Clinical and Genetic Findings in a Cohort of Patients with ..:

Bodenbender, Jan-Philipp ; Bethge, Leon ; Stingl, Katarina...
American Journal of Ophthalmology. , 2024

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

2

Comprehensive analysis of two hotspot codons in the TUBB4B ..:

Bodenbender, Jan-Philipp ; Marino, Valerio ; Philipp, Julia...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

3

Diagnostic genome sequencing improves diagnostic yield: a p..:

Weisschuh, Nicole ; Mazzola, Pascale ; Zuleger, Theresia...
Journal of Medical Genetics. 61 (2023) 2 - p. 186-195 , 2023

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

4

Molecular Properties of Human Guanylate Cyclase-Activating ..:

Avesani, Anna ; Bielefeld, Laura ; Weisschuh, Nicole...
International Journal of Molecular Sciences. 23 (2022) 6 - p. 3240 , 2022

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

5

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/..

6

Characterization of a novel non‐canonical splice site varia..:

Priglinger, Claudia S. ; Rudolph, Günter ; Schmid, Irene...
Molecular Genetics & Genomic Medicine. 11 (2022) 3 - p. , 2022

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

7

Hepatic Expression of the Na+-Taurocholate Cotransporting P..:

Tremmel, Roman ; Nies, Anne T. ; van Eijck, Barbara A. C....
International Journal of Molecular Sciences. 23 (2022) 13 - p. 7468 , 2022

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

8

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/..

9

Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy ..:

Kellner, Ulrich ; Weisschuh, Nicole ; Weinitz, Silke...
International Journal of Molecular Sciences. 22 (2021) 4 - p. 2089 , 2021

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

10

No association of genetic variants in TLR4, TNF-α, IL10, IF..:

Mazzola, Pascale ; Schaeffeler, Elke ; Witzke, Oliver...
PLOS ONE. 16 (2021) 4 - p. e0246118 , 2021

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

11

New euchromatic variant dup(11)(p15.3p15.1) transmitted thr..:

Singer, Sylke ; Gazou, Anastasia ; Sturm, Marc...
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 3053-3056 , 2021

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

12

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/..

13

Clinical Characteristics of POC1B-Associated Retinopathy an..:

Weisschuh, Nicole ; Mazzola, Pascale ; Bertrand, Miriam...
International Journal of Molecular Sciences. 22 (2021) 10 - p. 5396 , 2021

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

14

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa:

Kuehlewein, Laura ; Zobor, Ditta ; Stingl, Katarina...
International Journal of Molecular Sciences. 22 (2021) 5 - p. 2374 , 2021

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

15

Characterization of Genetic Heterogeneity in Recurrent Meta..:

Sauter-Meyerhoff, Carolin ; Bohnert, Regina ; Mazzola, Pascale...
Cancers. 13 (2021) 24 - p. 6221 , 2021

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