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Marta Owczarek-Lipska
74  results:
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1

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..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

The mutation p.E113K in the Schiff base counterion of rhodo..:

Reiff, Charlotte ; Owczarek-Lipska, Marta ; Spital, Georg...
Scientific Reports.  6 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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13

A Mutation in the SUV39H2 Gene in Labrador Retrievers with ..:

Jagannathan, Vidhya ; Bannoehr, Jeanette ; Plattet, Philippe...
PLoS Genetics.  9 (2013)  10 - p. e1003848 , 2013
Link: https://doi.org/10.1371/..
 
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14

Maine Coon renal screening: ultrasonographical characterisa..:

Gendron, Karine ; Owczarek-Lipska, Marta ; Lang, Johann.
Journal of Feline Medicine and Surgery.  15 (2013)  12 - p. 1079-1085 , 2013
Link: https://doi.org/10.1177/..
 
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15

A Frameshift Mutation in the Cubilin Gene (CUBN) in Border ..:

Owczarek-Lipska, Marta ; Jagannathan, Vidhya ; Drögemüller, Cord...
PLoS ONE.  8 (2013)  4 - p. e61144 , 2013
Link: https://doi.org/10.1371/..
 
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