about
Inverse association between obesity predisposing FTO genotype and completed suicide.Evaluation of DNA double strand breaks repair efficiency in head and neck cancer.The lL-8 and IL-13 gene polymorphisms in inflammatory bowel disease and colorectal cancer.Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.Evaluation of polymorphisms in microRNA biosynthesis genes and risk of laryngeal cancer in the Polish population.MicroRNAs in glaucoma and neurodegenerative diseases.DNA damage and repair of head and neck cancer cells after radio- and chemotherapy.Polymorphisms of the XRCC3 C722T and the RAD51 G135C genes and the risk of head and neck cancer in a Polish population.The -2518 A/G MCP-1 polymorphism as a risk factor of inflammatory bowel disease.Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.An association of the MCP-1 and CCR2 single nucleotide polymorphisms with colorectal cancer prevalence.Analysis of the polymorphic variants of RAN and GEMIN3 genes and risk of Primary Open-Angle Glaucoma in the Polish population.Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.Oxidative modification of patient's plasma proteins and its role in pathogenesis of multiple sclerosis.Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.Melatonin reduces oxidative stress in the erythrocytes of multiple sclerosis patients with secondary progressive clinical course.Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexiaEvidence for HNRNPH1 being another gene for Bain type syndromic mental retardationNeurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spinesDevelopmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPsExome sequencing reveals mutations inMFN2andGDAP1in severe Charcot-Marie-Tooth disease
P50
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P50
description
Polish geneticist
@en
polska genetyk
@pl
wetenschapper
@nl
name
A Walczak
@nl
Anna Walczak
@en
Anna Walczak
@es
Anna Walczak
@fr
Anna Walczak
@pl
type
label
A Walczak
@nl
Anna Walczak
@en
Anna Walczak
@es
Anna Walczak
@fr
Anna Walczak
@pl
altLabel
A Walczak
@en
A Walczak
@fr
prefLabel
A Walczak
@nl
Anna Walczak
@en
Anna Walczak
@es
Anna Walczak
@fr
Anna Walczak
@pl
P214
P106
P21
P214
P31
P3124
P496
0000-0003-2011-5334
P734
P735
P7859
viaf-317150052