E-LIB Suche - Ergebnisse für: Anna Wawrocka

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/..

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/..

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/..

4

Novel variants in the PAX6 gene related to isolated aniridi:

Kuchalska, Katarzyna ; Wawrocka, Anna ; Krawczynski, Maciej R.
Congenital Anomalies. 63 (2023) 4 - p. 109-115 , 2023

Link: https://doi.org/10.1111/..

5

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Diseas..:

Skorczyk-Werner, Anna ; Tońska, Katarzyna ; Maciejczuk, Aleksandra...
International Journal of Molecular Sciences. 24 (2023) 24 - p. 17496 , 2023

Link: https://doi.org/10.3390/..

6

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/..

7

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/..

8

WDR35 variants in a cranioectodermal dysplasia patient with..:

Walczak‐Sztulpa, Joanna ; Wawrocka, Anna ; Sikora, Weronika...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3071-3077 , 2022

Link: https://doi.org/10.1002/..

9

Interfamilial clinical variability in four Polish families ..:

Walczak‐Sztulpa, Joanna ; Wawrocka, Anna ; Stańczyk, Małgorzata...
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1195-1203 , 2021

Link: https://doi.org/10.1002/..

10

Homozygous microdeletion in the 11p13 region in the patient..:

Wawrocka, Anna ; Walczak‐Sztulpa, Joanna ; Socha, Magdalena...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 642-647 , 2021

Link: https://doi.org/10.1002/..

11

The coincidence of two ultra-rare hereditary eye diseases: ..:

Skorczyk-Werner, Anna ; Raczynska, Dorota ; Wawrocka, Anna...
Intractable & Rare Diseases Research. 10 (2021) 3 - p. 202-206 , 2021

Link: https://doi.org/10.5582/..

12

Prenatal genetic diagnosis of cranioectodermal dysplasia in..:

Walczak‐Sztulpa, Joanna ; Wawrocka, Anna ; Leszczynska, Beata...
American Journal of Medical Genetics Part A. 182 (2020) 10 - p. 2417-2425 , 2020

Link: https://doi.org/10.1002/..

13

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/..

14

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/..

15

Non‐syndromic anophthalmia/microphthalmia can be caused by ..:

Wawrocka, Anna ; Walczak‐Sztulpa, Joanna ; Pawlak, Marta..
American Journal of Medical Genetics Part A. 185 (2020) 1 - p. 250-255 , 2020

Link: https://doi.org/10.1002/..