about
Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.DIS3 shapes the RNA polymerase II transcriptome in humans by degrading a variety of unwanted transcripts.Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.Sensitivity of Next-Generation Sequencing Metagenomic Analysis for Detection of RNA and DNA Viruses in Cerebrospinal Fluid: The Confounding Effect of Background Contamination.Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation.Methylation Sensitive Amplification Polymorphism Sequencing (MSAP-Seq)-A Method for High-Throughput Analysis of Differentially Methylated CCGG Sites in Plants with Large Genomes.Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis.Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.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.New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.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.Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?A cautionary note on using binary calls for analysis of DNA methylation.Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.Polymorphism of the oestrogen receptor beta gene (ESR2) is associated with susceptibility to Graves' diseaseCoexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathyExome sequencing reveals mutations inMFN2andGDAP1in severe Charcot-Marie-Tooth diseaseDifferential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and betaAP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
P50
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P50
description
Polish researcher
@en
Pools onderzoekster
@nl
cercetătoare poloneză
@ro
chercheuse polonaise
@fr
investigadora polaca
@es
investigadora polaca
@gl
investigadora polonesa
@ca
polnische Forscherin
@de
polska naukowiec
@pl
ricercatora polacca
@it
name
J Kosinska
@nl
J Kosinska
@sl
Joanna Kosińska
@ca
Joanna Kosińska
@de
Joanna Kosińska
@en
Joanna Kosińska
@es
Joanna Kosińska
@fr
Joanna Kosińska
@ga
Joanna Kosińska
@gl
Joanna Kosińska
@it
type
label
J Kosinska
@nl
J Kosinska
@sl
Joanna Kosińska
@ca
Joanna Kosińska
@de
Joanna Kosińska
@en
Joanna Kosińska
@es
Joanna Kosińska
@fr
Joanna Kosińska
@ga
Joanna Kosińska
@gl
Joanna Kosińska
@it
altLabel
J Kosinska
@en
Joanna Kosinska
@en
prefLabel
J Kosinska
@nl
J Kosinska
@sl
Joanna Kosińska
@ca
Joanna Kosińska
@de
Joanna Kosińska
@en
Joanna Kosińska
@es
Joanna Kosińska
@fr
Joanna Kosińska
@ga
Joanna Kosińska
@gl
Joanna Kosińska
@it
P106
P1153
56305543100
P1412
P1559
Joanna Kosińska
@pl
P21
P27
P31
P496
0000-0003-3767-6584