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Walczak-Sztulpa, Joanna
52  Ergebnisse:
Personensuche X
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1

Coexistence of Retinitis Pigmentosa and Ataxia in Patients ..:

Wawrocka, Anna ; Walczak-Sztulpa, Joanna ; Kuszel, Lukasz...
International Journal of Molecular Sciences.  25 (2024)  11 - p. 5759 , 2024
Link: https://doi.org/10.3390/..
 
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2

Ciliary phenotyping in renal epithelial cells in a cranioec..:

Walczak-Sztulpa, Joanna ; Wawrocka, Anna ; Kuszel, Łukasz...
Frontiers in Molecular Biosciences.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

Molecular Re-Diagnosis with Whole-Exome Sequencing Increase..:

Wawrocka, Anna ; Socha, Magdalena ; Walczak-Sztulpa, Joanna...
Diagnostics.  13 (2023)  4 - p. 730 , 2023
Link: https://doi.org/10.3390/..
 
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4

Identical IFT140 Variants Cause Variable Skeletal Ciliopath..:

Walczak-Sztulpa, Joanna ; Wawrocka, Anna ; Doornbos, Cenna...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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5

Molecular background of Leber congenital amaurosis in a Pol..:

Skorczyk-Werner, Anna ; Sowińska-Seidler, Anna ; Wawrocka, Anna..
Journal of Applied Genetics.  64 (2022)  1 - p. 89-104 , 2022
Link: https://doi.org/10.1007/..
 
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6

Case Report: Sequential Liver After Kidney Transplantation ..:

Ryżko, Joanna ; Walczak-Sztulpa, Joanna ; Czubkowski, Piotr...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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7

Compound heterozygous IFT140 variants in two Polish familie..:

Walczak-Sztulpa, Joanna ; Posmyk, Renata ; Bukowska-Olech, Ewelina M....
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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8

Targeted Next-Generation Sequencing in the Diagnosis of Fac..:

Bukowska-Olech, Ewelina ; Materna-Kiryluk, Anna ; Walczak-Sztulpa, Joanna...
Frontiers in Genetics.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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9

Correction to: Further phenotypic delineation of the auricu..:

Bukowska-Olech, Ewelina ; Sowińska-Seidler, Anna ; Łojek, Filip...
Journal of Applied Genetics.  62 (2020)  1 - p. 183-183 , 2020
Link: https://doi.org/10.1007/..
 
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10

Two sisters with microphthalmia and anterior segment dysgen..:

Wawrocka, Anna ; Walczak-Sztulpa, Joanna ; Bukowska-Olech, Ewelina...
Japanese Journal of Ophthalmology.  64 (2020)  2 - p. 134-139 , 2020
Link: https://doi.org/10.1007/..
 
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11

Further phenotypic delineation of the auriculocondylar synd..:

Bukowska-Olech, Ewelina ; Sowińska-Seidler, Anna ; Łojek, Filip...
Journal of Applied Genetics.  62 (2020)  1 - p. 107-113 , 2020
Link: https://doi.org/10.1007/..
 
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12

Identical IFT140 variants cause variable skeletal ciliopath..:

Walczak-Sztulpa, Joanna ; Wawrocka, Anna ; Doornbos, Cenna...
https://freidok.uni-freiburg.de/data/229225.  , 2022
Link: https://freidok.uni-frei..
 
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13

Identical IFT140 Variants Cause Variable Skeletal Ciliopath..:

Walczak-Sztulpa, Joanna ; Wawrocka, Anna ; Doornbos, Cenna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300986/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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14

Further phenotypic delineation of the auriculocondylar synd..:

Bukowska-Olech, Ewelina ; Sowińska-Seidler, Anna ; Łojek, Filip...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7822771/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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15

Compound heterozygous IFT140 variants in two Polish familie..:

Walczak-Sztulpa, Joanna ; Posmyk, Renata ; Bukowska-Olech, Ewelina M...
https://freidok.uni-freiburg.de/data/155121.  , 2020
Link: https://freidok.uni-frei..
 
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