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PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases.
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- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1273, doi. 10.1007/s10815-024-03105-w
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- Article
Information-Analytical Software for Developing Digital Models of Porous Structures' Materials Using a Cellular Automata Approach.
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- Technologies (2227-7080), 2024, v. 12, n. 1, p. 1, doi. 10.3390/technologies12010001
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- Article
The Influence of Lyophobicity and Lyophilicity of Film-Forming Systems on the Properties of Tin Oxide Films.
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- Coatings (2079-6412), 2023, v. 13, n. 12, p. 1990, doi. 10.3390/coatings13121990
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- Article
Evolution of midrapidity average transverse momentum of pions, kaons, protons and antiprotons in Au+Au collisions in (snn)1∕2= 7–39-GeV energy range from the beam energy scan program.
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- International Journal of Modern Physics E: Nuclear Physics, 2023, v. 32, n. 12, p. 1, doi. 10.1142/S0218301323500660
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- Article
The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing.
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- Biomedicines, 2022, v. 10, n. 12, p. 3255, doi. 10.3390/biomedicines10123255
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- Article
Simultaneous Analysis of Midrapidity p T Spectra of Identified Particle Species in Pb + Pb Collisions at s n n = 2.76 TeV Using Tsallis Distribution with Transverse Flow.
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- Universe (2218-1997), 2022, v. 8, n. 12, p. 655, doi. 10.3390/universe8120655
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- Article
Active Pharmaceutical Ingredients Transportation and Release from Aerogel Particles Processes Modeling.
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- Computation, 2022, v. 10, n. 8, p. 139, doi. 10.3390/computation10080139
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- Article
Analysis of Midrapidity p T Distributions of Identified Charged Particles in Pb + Pb Collisions at s n n = 5.02 TeV Using Tsallis Distribution with Embedded Transverse Flow.
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- Universe (2218-1997), 2022, v. 8, n. 8, p. 401, doi. 10.3390/universe8080401
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- Article
An Approach to the Automatic Construction of a Road Accident Scheme Using UAV and Deep Learning Methods.
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- Sensors (14248220), 2022, v. 22, n. 13, p. 4728, doi. 10.3390/s22134728
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- Article
Stem Cell-Based Trophoblast Models to Unravel the Genetic Causes of Human Miscarriages.
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- Cells (2073-4409), 2022, v. 11, n. 12, p. 1923, doi. 10.3390/cells11121923
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- Article
The Effect of pH Solution in the Sol–Gel Process on the Structure and Properties of Thin SnO 2 Films.
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- Processes, 2022, v. 10, n. 6, p. 1116, doi. 10.3390/pr10061116
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- Article
Study of midrapidity pt distributions of identified charged particles in Xe+Xe collisions at (snn)1/2=5.44TeV using non-extensive Tsallis statistics with transverse flow.
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- Modern Physics Letters A, 2022, v. 37, n. 15, p. 1, doi. 10.1142/S021773232250095X
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- Article
Signal-to-Noise Ratio Enhancement by Accumulation of Signal and Noise along the Spectrum.
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- Fluctuation & Noise Letters, 2022, v. 21, n. 2, p. 1, doi. 10.1142/S021947752250016X
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- Article
THE ROLE OF METACOGNITIVE EXPERIENCES IN THE PROCESS OF INTRA- AND INTERSUBJECTIVE MONITORING OF CLAIMS AND TRENDS IN THE BEHAVIOR OF CONTEMPORARY YOUTH.
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- Journal of Positive School Psychology, 2022, v. 6, n. 2, p. 2035
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- Article
Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.
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- Cytogenetic & Genome Research, 2022, v. 162, n. 3, p. 97, doi. 10.1159/000524342
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- Article
Fluctuations of Initial State and Event-by-Event Pseudo-Rapidity Correlations in High Energy Nuclear Collisions.
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- Universe (2218-1997), 2022, v. 8, n. 2, p. N.PAG, doi. 10.3390/universe8020067
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- Article
Identification of differentially methylated genes in first-trimester placentas with trisomy 16.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-04107-9
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- Article
Direct Measurements of Cosmic Rays (TeV and beyond) Using an Ultrathin Calorimeter: Lessening Fluctuation Method.
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- Applied Sciences (2076-3417), 2021, v. 11, n. 23, p. 11189, doi. 10.3390/app112311189
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- Article
From contemplation to classification of chromosomal mosaicism in human preimplantation embryos.
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- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 11, p. 2833, doi. 10.1007/s10815-021-02304-z
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- Article
NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.
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- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 11, p. 2893, doi. 10.1007/s10815-021-02312-z
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- Article
BiasCorrector: Fast and accurate correction of all types of experimental biases in quantitative DNA methylation data derived by different technologies.
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- International Journal of Cancer, 2021, v. 149, n. 5, p. 1150, doi. 10.1002/ijc.33681
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- Article
Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.
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- Biomedicines, 2021, v. 9, n. 8, p. 1030, doi. 10.3390/biomedicines9081030
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- Article
Cellular Automata Modeling of Three-Dimensional Chitosan-Based Aerogels Fiberous Structures with Bezier Curves.
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- Polymers (20734360), 2021, v. 13, n. 15, p. 2511, doi. 10.3390/polym13152511
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- Article
Inferior vena cava filters utilization in patients with venous thromboembolism: Analysis of a database of a tertiary hospital.
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- Phlebology, 2021, v. 36, n. 6, p. 450, doi. 10.1177/0268355520975582
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- Article
A cookbook for DNase Hi-C.
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- Epigenetics & Chromatin, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13072-021-00389-5
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- Article
Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.
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- Cytogenetic & Genome Research, 2021, v. 161, n. 3/4, p. 105, doi. 10.1159/000514491
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- Article
LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy.
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- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 1, p. 139, doi. 10.1007/s10815-020-02003-1
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- Article
Complex Modelling and Design of Catalytic Reactors Using Multiscale Approach—Part 2: Catalytic Reactions Modelling with Cellular Automata Approach.
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- Computation, 2020, v. 8, n. 4, p. 87, doi. 10.3390/computation8040087
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- Article
Modeling of Isocyanate Synthesis by the Thermal Decomposition of Carbamates.
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- Computation, 2020, v. 8, n. 4, p. 89, doi. 10.3390/computation8040089
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- Article
46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.
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- Genes, 2020, v. 11, n. 12, p. 1473, doi. 10.3390/genes11121473
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- Article
Aneuploidy and DNA Methylation as Mirrored Features of Early Human Embryo Development.
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- Genes, 2020, v. 11, n. 9, p. 1084, doi. 10.3390/genes11091084
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- Article
Specific features and mechanisms of brand promotion through social media.
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- EurAsian Journal of Biosciences, 2020, v. 14, n. 2, p. 5961
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- Article
Social and Environmental Innovations in Brazilian Siderurgy.
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- RAIMED: Revista de Administração IMED, 2020, v. 10, n. 2, p. 140, doi. 10.18256/2237-7956.2020.v10i2.3789
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- Article
Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
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- 2020
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- Abstract
Complex Modeling and Design of Catalytic Reactors Using Multiscale Approach—Part 1: Diffusion in Porous Catalyst.
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- Computation, 2020, v. 8, n. 1, p. 11, doi. 10.3390/computation8010011
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- Article
A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss.
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- 2018
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- Publication type:
- Case Study
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2395, doi. 10.1002/ajmg.a.40478
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- Article
Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene.
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- Molecular Neurobiology, 2018, v. 55, n. 8, p. 6533, doi. 10.1007/s12035-017-0851-5
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- Article
Bachelors safety culture formation in the field of environmental protection.
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- EurAsian Journal of Biosciences, 2018, v. 12, n. 2, p. 157
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- Article
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.
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- 2018
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- Case Study
Genomic structural variations for cardiovascular and metabolic comorbidity.
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- Scientific Reports, 2017, p. 41268, doi. 10.1038/srep41268
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- Publication type:
- Article
A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2089, doi. 10.1002/ajmg.a.37754
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- Article
A Comparison of Genome-Wide DNA Methylation Patterns between Different Vascular Tissues from Patients with Coronary Heart Disease.
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- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122601
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- Article
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
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- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0097-0
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- Article
Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 513, doi. 10.1038/sj.ejhg.5201178
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- Article