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Mazzola, Pascale
95
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Online (95)
Mediatypes
Articles (Online) (35)
OpenAccess-fulltext (60)
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1
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/..
?
2
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/..
?
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
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/..
?
5
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/..
?
6
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/..
?
7
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/..
?
8
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
12
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/..
?
13
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/..
?
14
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/..
?
15
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/..
1-15