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Owczarek‐Lipska, Marta
78
results:
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Online (78)
Mediatypes
Articles (Online) (25)
OpenAccess-fulltext (53)
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1
Rare variants in the GABAA receptor subunit ε identified in..:
Markus, Fenja
;
Angelini, Chloé
;
Trimouille, Aurelien
...
Molecular Genetics & Genomic Medicine. 8 (2020) 9 - p. , 2020
Link:
https://doi.org/10.1002/..
?
2
Compound heterozygous RPE65 mutations associated with an ea..:
Owczarek‐Lipska, Marta
;
Song, Fei
;
Jakšić, Vesna
.
The Journal of Gene Medicine. 22 (2020) 10 - p. , 2020
Link:
https://doi.org/10.1002/..
?
3
Novel synonymous and missense variants in FGFR1 causing Har..:
Courage, Carolina
;
Jackson, Christopher B.
;
Owczarek‐Lipska, Marta
...
American Journal of Medical Genetics Part A. 179 (2019) 12 - p. 2447-2453 , 2019
Link:
https://doi.org/10.1002/..
?
4
A 16‐bp deletion in the canine PDK4 gene is not associated ..:
Owczarek‐Lipska, Marta
;
Mausberg, Theresa‐Bernadette
;
Stephenson, Hannah
...
Animal Genetics. 44 (2012) 2 - p. 239-239 , 2012
Link:
https://doi.org/10.1111/..
?
5
Skewed X-inactivation is associated with retinal dystrophy ..:
Usman, Muhammad
;
Jüschke, Christoph
;
Song, Fei
...
Life Science Alliance. 6 (2023) 10 - p. e202201814 , 2023
Link:
https://doi.org/10.26508..
?
6
A TARP Syndrome Phenotype Is Associated with a Novel Splici..:
Owczarek-Lipska, Marta
;
Markus, Fenja
;
Bültmann, Eva
..
Genes. 13 (2022) 11 - p. 2154 , 2022
Link:
https://doi.org/10.3390/..
?
7
High-Throughput Sequencing to Identify Mutations Associated..:
Song, Fei
;
Owczarek-Lipska, Marta
;
Ahmels, Tim
...
Genes. 12 (2021) 8 - p. 1269 , 2021
Link:
https://doi.org/10.3390/..
?
8
Autosomal dominant optic atrophy: A novel treatment for OPA..:
Jüschke, Christoph
;
Klopstock, Thomas
;
Catarino, Claudia B.
...
Molecular Therapy - Nucleic Acids. 26 (2021) - p. 1186-1197 , 2021
Link:
https://doi.org/10.1016/..
?
9
A novel missense variant in the EML1 gene associated with b..:
Markus, Fenja
;
Kannengießer, Annika
;
Näder, Patricia
...
Journal of Human Genetics. 66 (2021) 12 - p. 1159-1167 , 2021
Link:
https://doi.org/10.1038/..
?
10
Identification of Brain-Specific Treatment Effects in NPC1 ..:
Gläser, Anne
;
Hammerl, Franziska
;
Gräler, Markus H.
...
International Journal of Molecular Sciences. 21 (2020) 12 - p. 4502 , 2020
Link:
https://doi.org/10.3390/..
?
11
Translational Read-Through Therapy of RPGR Nonsense Mutatio..:
Vössing, Christine
;
Owczarek-Lipska, Marta
;
Nagel-Wolfrum, Kerstin
...
International Journal of Molecular Sciences. 21 (2020) 22 - p. 8418 , 2020
Link:
https://doi.org/10.3390/..
?
12
Novel mutations in the GJC2 gene associated with Pelizaeus–..:
Owczarek-Lipska, Marta
;
Mulahasanovic, Lejla
;
Obermaier, Carolin D.
...
Molecular Biology Reports. 46 (2019) 4 - p. 4507-4516 , 2019
Link:
https://doi.org/10.1007/..
?
13
Combining Engineered U1 snRNA and Antisense Oligonucleotide..:
Breuel, Saskia
;
Vorm, Mariann
;
Bräuer, Anja U.
..
Molecular Therapy - Nucleic Acids. 18 (2019) - p. 123-130 , 2019
Link:
https://doi.org/10.1016/..
?
14
A Novel C-Terminal Mutation in Gsdma3 (C+/H−) Leads to Alop..:
Swirski, Sebastian
;
Röger, Carsten
;
Pienkowska-Schelling, Aldona
...
Investigative Opthalmology & Visual Science. 59 (2018) 1 - p. 561 , 2018
Link:
https://doi.org/10.1167/..
?
15
Molecular Characterization of Three Canine Models of Human ..:
Hytönen, Marjo K.
;
Arumilli, Meharji
;
Lappalainen, Anu K.
...
PLOS Genetics. 12 (2016) 5 - p. e1006037 , 2016
Link:
https://doi.org/10.1371/..
1-15