E-LIB Suche - Ergebnisse für: Walczak‐Sztulpa, Joanna

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

Intrafamilial phenotypic variability in a Polish family wit..:

Walczak‐Sztulpa, Joanna ; Wawrocka, Anna ; Sobierajewicz, Agata...
American Journal of Medical Genetics Part A. 173 (2017) 5 - p. 1364-1368 , 2017

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

7

Co‐occurrence of Jalili syndrome and muscular overgrowth:

Wawrocka, Anna ; Walczak‐Sztulpa, Joanna ; Badura‐Stronka, Magdalena...
American Journal of Medical Genetics Part A. 173 (2017) 8 - p. 2280-2283 , 2017

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

8

Chromosome deletions in 13q33–34: Report of four patients a..:

Walczak‐Sztulpa, Joanna ; Wisniewska, Marzena ; Latos‐Bielenska, Anna...
American Journal of Medical Genetics Part A. 146A (2008) 3 - p. 337-342 , 2008

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

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

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/..

15

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/..