Maciej Robert Krawczyński

Assistant, Assistant Professor, Asociate Professor, Full Professor

Poznan University of Medical Sciences

Poland

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Maciej Robert Krawczyński is an Assistant Professor at the Poznan University of Medical Sciences in Poland. His research focuses on inherited eye diseases, genetic testing for cardiovascular conditions, and neuropathy target esterase activities in various disorders. Recent publications include investigations into retinitis pigmentosa, glioblastoma multiforme recurrence, and rare neurometabolic diseases. Dr. Krawczyński contributes significantly to the understanding and diagnosis of genetic disorders through his extensive work in clinical and molecular genetics.

Maciej Robert Krawczyński

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Articles (19)

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

Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland

Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by the Polish Society of Human Genetics and Cardiovascular Patient Communities

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

Standard therapy or additionally radioactive iodine (131I) therapy; which will stop the recurrence of glioblastoma multiforme (GBM)?

Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease

CDHR1-Related Cone–Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results—A Case Report

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

From Cushing syndrome to lipodystrophy: an ultrarare case of MFN2-associated lipomatosis

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

Inherited retinal dystrophies caused by RPE65 gene mutation: Clinical presentation, economic and social burden

The coincidence of two ultra-rare hereditary eye diseases: Gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.

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

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Collaborators (10)

Anna Gotz-Więckowska

Mariola Dorecka

Maria Daniel

Joanna Trubicka

Katarzyna Nowomiejska

Anna Wawrocka

Katarzyna Tonska

Agnieszka Piotrowska-Nowak

Ewa Mrukwa-Kominek

Mirosław Andrusiewicz

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