Anna Wawrocka

Poznan University of Medical Sciences

Poland

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Articles (10)

Year:

2024

Year:

2023

Year:

2023

Year:

2023

Year:

2023

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2022

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2022

Year:

2022

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2021

Year:

2020

Collaborators (6)

Anna Gotz-Więckowska

Poznan University of Medical Sciences

POLAND

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Malgorzata Stanczyk

Polish Mother’s Memorial Hospital Research Institute

POLAND

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Katarzyna Nowomiejska

Medical University of Lublin

POLAND

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Maciej Robert Krawczyński

Assistant, Assistant Professor, Asociate Professor, Full Professor

Poznan University of Medical Sciences

POLAND

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Katarzyna Tonska

University of Warsaw

POLAND

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Mirosław Andrusiewicz

Professor

Poznan University of Medical Sciences

POLAND

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Anna Wawrocka

Research Interests

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Articles (10)

Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes

Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa

Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients

Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS

Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35

Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner

Collaborators (6)

Anna Gotz-Więckowska

Malgorzata Stanczyk

Katarzyna Nowomiejska

Maciej Robert Krawczyński

Katarzyna Tonska

Mirosław Andrusiewicz

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