Anna Biernacka

Pawinskiego 3c Str
Warsaw, MZ 02106, Poland

Last Updated: 09/26/2026

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Found 25 publications

Transformations in river water chemistry following wastewater treatment implementation in a mountain region of the Polish Carpathians.

Transformations in river water chemistry following wastewater treatment implementation in a mountain region of the Polish Carpathians.

Journal: Environmental science and pollution research international
Published: May 26, 2025

Transformation of water chemistry in the Stara River under climate and land use changes in the Carpathians.

Transformation of water chemistry in the Stara River under climate and land use changes in the Carpathians.

Journal: Scientific reports
Published: March 14, 2025

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.

Journal: Diagnostics (Basel, Switzerland)
Published: June 06, 2021

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.

Journal: Journal of clinical medicine
Published: June 09, 2020

High-resolution, ultrasensitive and quantitative DNA double-strand break labeling in eukaryotic cells using i-BLESS.

High-resolution, ultrasensitive and quantitative DNA double-strand break labeling in eukaryotic cells using i-BLESS.

Journal: Nature protocols
Published: March 05, 2020

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.

Journal: Journal of clinical medicine
Published: December 10, 2019

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.

Journal: Journal of applied genetics
Published: October 28, 2019

Topoisomerase 1 prevents replication stress at R-loop-enriched transcription termination sites.

Topoisomerase 1 prevents replication stress at R-loop-enriched transcription termination sites.

Journal: Nature communications
Published: August 19, 2019

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.

Journal: Clinical genetics
Published: February 11, 2019

qDSB-Seq is a general method for genome-wide quantification of DNA double-strand breaks using sequencing.

qDSB-Seq is a general method for genome-wide quantification of DNA double-strand breaks using sequencing.

Journal: Nature communications
Published: February 01, 2019

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.

Journal: Clinical genetics
Published: July 26, 2018

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.

Journal: Human molecular genetics
Published: June 20, 2018
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Last Updated: 09/26/2026