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Ploski R

Medical University of Warsaw

Poland

Research Interests

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Professors in Poland Professors in Biostatistics Biostatistics professors in Poland

Articles (33)

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Collaborators (41)

Patryk Lipinski

Children's Memorial Health Institute

POLAND

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Justyna Paprocka

Medical University of Silesia

POLAND

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Szymon Ziętkiewicz

University of Gdańsk

POLAND

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Barbara Steinborn

Prof.

Poznan University of Medical Sciences

POLAND

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Beata Mrozikiewicz-Rakowska

Senior Lecturer

Medical University of Warsaw

POLAND

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Zofia Bilinska

Head

Institute of Cardiology

POLAND

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Justyna Karolak

Poznan University of Medical Sciences

POLAND

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Krzysztof Szczałuba

assistant professor

Medical University of Warsaw

POLAND

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Ewa Mojs

POLAND

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Leszek Czupryniak

Medical University of Warsaw

POLAND

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Aleksandra Jezela-Stanek

National Tuberculosis and Lung Diseases Research Institute

POLAND

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Dorota Kamińska

Poznan University of Medical Sciences

POLAND

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Przemysław Chmielewski

National Institute of Cardiology

POLAND

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Katarzyna Jaskiewicz-Rajewicz

Institute of Human Genetics Polish Academy of Sciences

POLAND

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Tomasz Szczapa

Poznan University of Medical Sciences

POLAND

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Pawel Matusik

Associated Professor

Medical University of Silesia School of Medicine in Katowice

POLAND

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Adrianna Mostowska

Poznan University of Medical Sciences

POLAND

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Łukasz Kępczyński

assistant professor

Polish Mother’s Memorial Hospital Research Institute

POLAND

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Elżbieta Ciara

PhD; Head of the Molecular Genetics Lab

Children's Memorial Health Institute

POLAND

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Jennifer G. Mulle

Emory University School of Medicine

UNITED STATES

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Marzena Gajecka

Professor, Head of the Chair and Department

Uniwersytet Medyczny imienia Karola Marcinkowskiego w Poznaniu

POLAND

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Juliusz Przysławski

Head/Prof

Poznan University of Medical Sciences

POLAND

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Ewa Wender-Ożegowska

Professor, M.D. PhD.

Poznan University of Medical Sciences

POLAND

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Lena Rutkowska

Polish Mother’s Memorial Hospital Research Institute

POLAND

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Karolina Rutkowska

Medical University of Warsaw

POLAND

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Elzbieta Jurkiewicz

Children's Memorial Health Institute

POLAND

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Robert Smigiel

prof.

Wroclaw Medical University

POLAND

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Maria Mazurkiewicz-Bełdzińska

Medical University of Gdansk

POLAND

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ILONA SZABŁOWSKA-GADOMSKA

Medical University of Warsaw

POLAND

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Xianlin Han

Professor

University of Texas Health Science Center at San Antonio

UNITED STATES

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Ewa Zietkiewicz

professor

Institute of Human Genetics

POLAND

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Dominik Cysewski

Medical University of Białystok

POLAND

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Edyta Heropolitanska-Pliszka

Children's Memorial Health Institute

POLAND

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Damian Sieńko

Medical University of Warsaw

POLAND

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Magdalena Machnikowska-Sokołowska

MD, PhD, ass., Head of Magnetic Resonance Department

Medical University of Silesia

POLAND

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Justyna Dąbrowska

Poznan University of Medical Sciences

POLAND

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Malgorzata Lewandowska-Szumiel

Medical University of Warsaw

POLAND

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Anna Kutkowska-Kaźmierczak

Instytut Matki i Dziecka

POLAND

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Dominik Świętoń

professor assistant

Gdański Uniwersytet Medyczny

POLAND

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Malgorzata Pac

Head od department of immunology

Instytut Pomnik -Centrum Zdrowia Dziecka

POLAND

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Maria Szczepanska

Prof.

Medical University of Silesia Faculty of Medical Sciences in Zabrze

POLAND

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Ploski R

Research Interests

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Articles (33)

Plasma Lipidomic Phenotype Associated with Pathogenic LDLR Variants in Familial Hypercholesterolemia

Asparagine Synthetase Deficiency: A Novel ASNS Variant and a Systematic Review of Clinical Phenotypes and Cerebrospinal Fluid Asparagine Levels

TANGO2-related metabolic encephalopathy–arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report

Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement

Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels

The Attenuated Phenotype of CNTNAP1‐Related Neuropathy Mimics Spastic–Dystonic Cerebral Palsy

A sensory and motor neuropathy caused by a genetic variant of NAMPT

Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework

DNA methylation dysregulation patterns in the 1p36 region instability

Mixed Segmental Uniparental Disomy of Chromosome 15q11-q1 Coexists with Homozygous Variant in GNB5 Gene in Child with Prader–Willi and Lodder–Merla Syndrome

PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders—New Case Report and a Comprehensive Review

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies

Neurodevelopmental disorder in a patient with <scp><i>HMBS</i></scp> and <scp><i>SCN3A</i></scp> variants—A possibly blended phenotype further delineating autosomal recessive <scp><i>HMBS</i></scp> related disease

Troponin T Assessment Allows for Identification of Mutation Carriers among Young Relatives of Patients with LMNA-Related Dilated Cardiomyopathy

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia

A Rare De Novo Mutation in the <i>TRIM8</i> Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease

Effects of maternal type 1 diabetes and confounding factors on neonatal microbiomes

The epilepsy phenotype of KCNK4-related neurodevelopmental disease

Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients

Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole‐exome sequencing

Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact

Non-allergic eye rubbing is a major behavioral risk factor for keratoconus

DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases

Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients

Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing

Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients

Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants

Collaborators (41)

Patryk Lipinski

Justyna Paprocka

Szymon Ziętkiewicz

Barbara Steinborn

Beata Mrozikiewicz-Rakowska

Zofia Bilinska

Justyna Karolak

Krzysztof Szczałuba

Ewa Mojs

Leszek Czupryniak

Aleksandra Jezela-Stanek

Dorota Kamińska

Przemysław Chmielewski

Katarzyna Jaskiewicz-Rajewicz

Tomasz Szczapa

Pawel Matusik

Adrianna Mostowska

Łukasz Kępczyński

Elżbieta Ciara

Jennifer G. Mulle

Marzena Gajecka

Juliusz Przysławski

Ewa Wender-Ożegowska

Lena Rutkowska

Karolina Rutkowska

Elzbieta Jurkiewicz

Robert Smigiel

Maria Mazurkiewicz-Bełdzińska

ILONA SZABŁOWSKA-GADOMSKA

Xianlin Han

Ewa Zietkiewicz

Dominik Cysewski

Edyta Heropolitanska-Pliszka

Damian Sieńko

Magdalena Machnikowska-Sokołowska

Justyna Dąbrowska

Malgorzata Lewandowska-Szumiel

Anna Kutkowska-Kaźmierczak

Dominik Świętoń

Malgorzata Pac

Maria Szczepanska

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