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Novel BRCA1 mutations and more frequent intron-20 alteration found among 236 women from Western Poland.
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- Oncogene, 1997, v. 15, n. 15, p. 1773, doi. 10.1038/sj.onc.1201360
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- Article
Somatic instability of the expanded GAA repeats in Friedreich’s ataxia.
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- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189990
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- Article
Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.
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- Molecular Therapy, 2015, v. 23, n. 6, p. 1055, doi. 10.1038/mt.2015.41
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- Article
Study on the Sensing Coating of the Optical Fibre CO<sub>2</sub> Sensor.
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- Sensors (14248220), 2015, v. 15, n. 12, p. 31888, doi. 10.3390/s151229890
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- Article
A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients.
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- Molecular Neurobiology, 2020, v. 57, n. 6, p. 2639, doi. 10.1007/s12035-020-01899-1
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- Article
Selected missense mutations impair frataxin processing in Friedreich ataxia.
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- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 8, p. 575, doi. 10.1002/acn3.433
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- Article
Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia.
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- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 7, p. 523, doi. 10.1002/acn3.322
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- Article
PCR-SSCP-HDX Analysis of Pooled DNA for More Rapid Detection of Germline Mutations in Large Genes. The BRCA1 Example.
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- Nucleic Acids Research, 1996, v. 24, n. 6, p. 1177, doi. 10.1093/nar/24.6.1177
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- Article
Asymmetrical optical fibre coupler for laser side pumping: optimization of its parameters and application in laser.
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- Optical & Quantum Electronics, 2008, v. 40, n. 13, p. 1065, doi. 10.1007/s11082-009-9311-4
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- Article
Use of antiviral therapy in patients with chronic hepatitis C.
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- Open Medicine, 2015, v. 10, n. 1, p. -1, doi. 10.1515/med-2015-0032
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- Article
Modular coherent photonic-aided payload receiver for communications satellites.
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- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10077-4
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- Article
Selected Histone Deacetylase Inhibitors Reverse the Frataxin Transcriptional Defect in a Novel Friedreich's Ataxia Induced Pluripotent Stem Cell-Derived Neuronal Reporter System.
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- Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.836476
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- Article
Male Students Physique In Accordance With Heath-Carter Method.
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- Collegium Antropologicum, 2019, v. 43, n. 2, p. 119
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- Article
Somatic Characteristics and Motor Capacity of 10-Year Swimming Pools from Basic School No. 60 in Bydgoszcz.
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- Collegium Antropologicum, 2017, v. 41, n. 3, p. 1
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- Article
The Assessment of the Female Student Physique in Accordance with Heath-Carter Method.
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- Collegium Antropologicum, 2017, v. 41, n. 2, p. 1
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- Article
Expanded complexity of unstable repeat diseases.
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- Biofactors, 2013, v. 39, n. 2, p. 164, doi. 10.1002/biof.1060
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- Article
Intermodal Four-Wave Mixing Process in Strain-Induced Birefringent Multimode Optical Fibers.
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- Materials (1996-1944), 2022, v. 15, n. 16, p. 5604, doi. 10.3390/ma15165604
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- Article
An Efficient Method for the Intermodal Four-Wave Mixing Process.
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- Materials (1996-1944), 2022, v. 15, n. 13, p. 4550, doi. 10.3390/ma15134550
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- Article
Novel dopamine receptor 3 antagonists inhibit the growth of primary and temozolomide resistant glioblastoma cells.
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- PLoS ONE, 2021, v. 16, n. 5, p. 1, doi. 10.1371/journal.pone.0250649
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- Article
Targeting 3′ and 5′ untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression.
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- Nucleic Acids Research, 2021, v. 49, n. 20, p. 11560, doi. 10.1093/nar/gkab954
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- Article
Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich’s ataxia.
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- Nucleic Acids Research, 2011, v. 39, n. 19, p. 8366, doi. 10.1093/nar/gkr542
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- Article
Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference.
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- Nucleic Acids Research, 2011, v. 39, n. 9, p. 3852, doi. 10.1093/nar/gkq1323
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- Article
CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci.
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- Human Mutation, 2007, v. 28, n. 5, p. 451, doi. 10.1002/humu.20466
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- Article
Effect of physical therapy, Thai acupressure technique, and Nordic walking on the autonomic dysfunction syndrome.
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- Journal of Physical Education & Sport, 2021, v. 21, p. 2915, doi. 10.7752/jpes.2021.s5387
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- Article
Composition of personality education of future teachers during the creation of health environment at higher education institution.
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- Journal of Physical Education & Sport, 2021, v. 21, p. 2803, doi. 10.7752/jpes.2021.s5373
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- Article
Adaptive physical education for children with the Down syndrome.
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- Journal of Physical Education & Sport, 2021, v. 21, p. 2790, doi. 10.7752/jpes.2021.s5371
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- Article
Effect of yoga exercises on the senior schoolchildren's biological age during physical education.
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- Journal of Physical Education & Sport, 2021, v. 21, p. 2782, doi. 10.7752/jpes.2021.s5370
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- Article
Results of physical rehabilitation of primary school children with recurrent bronchitis at sanatorium.
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- Journal of Physical Education & Sport, 2021, v. 21, p. 2796, doi. 10.7752/jpes.2021.s5372
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- Article
Improvement of special training of karatists for kumite competitions using Kata.
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- Journal of Physical Education & Sport, 2021, v. 21, n. 5, p. 2466, doi. 10.7752/jpes.2021.05332
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- Article
Effect of incentive spirometry and inspiratory muscle training on the formation of the therapeutic alliance between physical therapists and cardiac surgery patients.
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- Journal of Physical Education & Sport, 2021, v. 21, n. 4, p. 1929, doi. 10.7752/jpes.2021.04245
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- Article
Morpho-functional screening of primary school students during the course of physical education.
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- Journal of Physical Education & Sport, 2021, v. 21, n. 2, p. 748, doi. 10.7752/jpes.2021.02093
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- Article
Interpersonal differences caused by adaptogen changes in the entropies of EEG, HRV, immunocytogram, and leukocytogram.
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- Journal of Physical Education & Sport, 2020, v. 20, p. 982, doi. 10.7752/jpes.2020.s2139
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- Article
Creation of a Healthcare Environment at a Higher Educational Institution.
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- Journal of Physical Education & Sport, 2020, v. 20, p. 975, doi. 10.7752/jpes.2020.s2138
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- Article
Implementation of electronic health control technologies in higher education institutions.
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- Journal of Physical Education & Sport, 2020, v. 20, p. 921, doi. 10.7752/jpes.2020.s2131
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- Article
Sexual dimorphism of the selected somatic features of students attending physical education course in Kazimierz Wielki University during the years 2006-2017.
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- Journal of Physical Education & Sport, 2020, v. 20, n. 1, p. 242, doi. 10.7752/jpes.2020.01032
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- Article
The relationships setting between evaluation actions the and styles of didactic transport at teachers of physical education.
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- Journal of Physical Education & Sport, 2019, v. 19, p. 100, doi. 10.7752/jpes.2019.s1015
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- Article
The professional attitudes of teachers of physical education.
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- Journal of Physical Education & Sport, 2019, v. 19, p. 92, doi. 10.7752/jpes.2019.s1014
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- Article
Advances in mechanisms of genetic instability related to hereditary neurological diseases.
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- Nucleic Acids Research, 2005, v. 33, n. 12, p. 3785, doi. 10.1093/nar/gki697
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- Article
Facile FMR1 mRNA structure regulation by interruptions in CGG repeats.
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- Nucleic Acids Research, 2005, v. 33, n. 2, p. 451, doi. 10.1093/nar/gki186
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- Article
Structures of trinucleotide repeats in human transcripts and their functional implications.
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- Nucleic Acids Research, 2003, v. 31, n. 19, p. 5463, doi. 10.1093/nar/gkg767
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- Article
Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion.
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- PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0223209
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- Article
CENTILE CHARTS OF MOTOR DEVELOPMENT IN GIRLS AGED BETWEEN 7.5-19.5 FROM THE KUJAWSKO-POMORSKIE DISTRICT.
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- Acta Universitatis Palackianae Olomucensis. Gymnica, 2006, v. 36, n. 4, p. 63
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- Article
Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia.
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- Human Molecular Genetics, 2022, v. 31, n. 20, p. 3539, doi. 10.1093/hmg/ddac134
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- Article
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
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- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6932, doi. 10.1093/hmg/ddv397
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- Article
New Reasons to Pursue the Therapeutic Potential of Synthetic Nucleic Acids for Neurological Diseases.
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- JAMA Neurology, 2016, v. 73, n. 10, p. 1175, doi. 10.1001/jamaneurol.2016.2571
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- Article