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Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation – a novel phenotype of the mitochondrial disease

Clinical genetics, 2017-01, Vol.91 (1), p.30-37

2017

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KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

Clinical genetics, 2017-05, Vol.91 (5), p.769-773

2017

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New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation

Clinical genetics, 2017-12, Vol.92 (6), p.671-673

2017

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TRPV6-defective variants are associated with chronic pancreatitis in Polish pediatric patients

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2020-11, Vol.20, p.S36-S36

2020

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TRPV6 functionally defective variants are associated with chronic pancreatitis in non-alcoholic early-onset polish and German patients

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2021-07, Vol.21, p.S8-S8

2021

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A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa

Clinical genetics, 2018-05, Vol.93 (5), p.1107-1108

2018

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Differential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and beta

Lupus, 2011-01, Vol.20 (1), p.85-89

2011

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Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2022-06, Vol.22 (5), p.564-571

2022

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Adaptive SOA Solution Stack

IEEE transactions on services computing, 2012-04, Vol.5 (2), p.149-163

2012

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Detection of a novel premature stop codon in the OPA1 gene in autosomal dominant optic atrophy

Acta ophthalmologica (Oxford, England), 2012-09, Vol.90 (s249), p.0-0

2012

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Severe Phenotype of De Barsy Syndrome in Two Siblings with Novel Mutations in the ALDH18A1 Gene

Journal of Clinical & Medical Genomics, 2017, Vol.5 (2)

2017

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Architecture of a Semantic-Aware Application SemanticPhoto Case Study

2007 4th IEEE Workshop on Intelligent Data Acquisition and Advanced Computing Systems: Technology and Applications, 2007, p.434-439

2007

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Late subjective audiometric verifications of the early auditory brainstem responses results in young hard-of-hearing children before their speech development

Otolaryngologia Polska, 1993, Vol.47 (1), p.76-79

1993

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Review: Long non-coding RNA in livestock

Animal (Cambridge, England), 2020-10, Vol.14 (10), p.2003-2013

2020

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AI-based structure prediction empowers integrative structural analysis of human nuclear pores

Science (American Association for the Advancement of Science), 2022-06, Vol.376 (6598), p.eabm9506-eabm9506

2022

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X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking

Proceedings of the National Academy of Sciences - PNAS, 2014-04, Vol.111 (17), p.6305-6310

2014

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Comparative lipidomic analysis of synovial fluid in human and canine osteoarthritis

Osteoarthritis and cartilage, 2016-08, Vol.24 (8), p.1470-1478

2016

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The Concept of Application Clustering in Cloud Computing Environments: The Need for Extending the Capabilities of Virtual Networks

2010 Fifth International Multi-conference on Computing in the Global Information Technology, 2010, p.139-145

2010

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Co-translational binding of importins to nascent proteins

Nature communications, 2023-06, Vol.14 (1), p.3418-3418, Article 3418

2023

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Do hearing aids impair hearing?

Otolaryngologia Polska, 1991, Vol.45 (2), p.128

1991

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A liver immune rheostat regulates CD8 T cell immunity in chronic HBV infection

Nature (London), 2024-07, Vol.631 (8022), p.867-875

2024

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Protein-prime/modified vaccinia virus Ankara vector-boost vaccination overcomes tolerance in high-antigenemic HBV-transgenic mice

Vaccine, 2016-02, Vol.34 (7), p.923-932

2016

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Lipidomic analysis of normal synovial fluid from humans and horses - a comparative study

Osteoarthritis and cartilage, 2020-04, Vol.28, p.S349-S350

2020

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Expression of Acidic Fibrillar Protein and Neuroglobin in Thrombolytic Patients in Ischemic Stroke

Clinical interventions in aging, 2024-09, Vol.19, p.1529-1543

2024

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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

New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation

TRPV6-defective variants are associated with chronic pancreatitis in Polish pediatric patients

TRPV6 functionally defective variants are associated with chronic pancreatitis in non-alcoholic early-onset polish and German patients

A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa

Differential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and beta

Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene

Adaptive SOA Solution Stack

Detection of a novel premature stop codon in the OPA1 gene in autosomal dominant optic atrophy

Severe Phenotype of De Barsy Syndrome in Two Siblings with Novel Mutations in the ALDH18A1 Gene

Architecture of a Semantic-Aware Application SemanticPhoto Case Study

Late subjective audiometric verifications of the early auditory brainstem responses results in young hard-of-hearing children before their speech development

Review: Long non-coding RNA in livestock

AI-based structure prediction empowers integrative structural analysis of human nuclear pores

X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking

Comparative lipidomic analysis of synovial fluid in human and canine osteoarthritis

The Concept of Application Clustering in Cloud Computing Environments: The Need for Extending the Capabilities of Virtual Networks

Co-translational binding of importins to nascent proteins

Do hearing aids impair hearing?

A liver immune rheostat regulates CD8 T cell immunity in chronic HBV infection

Protein-prime/modified vaccinia virus Ankara vector-boost vaccination overcomes tolerance in high-antigenemic HBV-transgenic mice

Lipidomic analysis of normal synovial fluid from humans and horses - a comparative study

Amino Acid Substitutions within HLA-B27-Restricted T Cell Epitopes Prevent Recognition by Hepatitis Delta Virus-Specific CD8 + T Cells

Expression of Acidic Fibrillar Protein and Neuroglobin in Thrombolytic Patients in Ischemic Stroke

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