Anna Walczak

Pawinskiego 3c Str
Warsaw, MZ 02106, Poland

Last Updated: 09/26/2026

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Found 22 publications

The epilepsy phenotype of KCNK4-related neurodevelopmental disease.

The epilepsy phenotype of KCNK4-related neurodevelopmental disease.

Journal: Seizure

Published: June 04, 2024

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

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

Journal: Genes

Published: March 02, 2023

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

Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.

Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.

Journal: American journal of medical genetics. Part A

Published: June 03, 2021

A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.

A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 20, 2021

Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father.

Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father.

Journal: European journal of medical genetics

Published: April 19, 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

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2.

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2.

Journal: Clinical dysmorphology

Published: August 20, 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

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Journal: Parkinsonism & related disorders

Published: October 28, 2018

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

Showing 1-12 of 22

Last Updated: 09/26/2026