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Owczarek‐Lipska, Marta
78  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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