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Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.557147
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- Publication type:
- Article
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.01038
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- Publication type:
- Article
Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 45, doi. 10.1159/000479177
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- Publication type:
- Article
Employees balance and stability as key points in organizational performance.
- Published in:
- Logic Journal of the IGPL, 2022, v. 30, n. 4, p. 664, doi. 10.1093/jigpal/jzab010
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- Publication type:
- Article
Structural damage detection using transmissibility together with hierarchical clustering analysis and similarity measure.
- Published in:
- Structural Health Monitoring, 2017, v. 16, n. 6, p. 711, doi. 10.1177/1475921716680849
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- Publication type:
- Article
Preface: Modelling and numerical simulations of dynamical systems.
- Published in:
- 2017
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- Publication type:
- Editorial
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 135, doi. 10.1002/ajmg.a.63004
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- Publication type:
- Article
Nursing Education Based on "Hybrid" Problem-Based Learning: The Impact of PBL-Based Clinical Cases on a Pathophysiology Course.
- Published in:
- Journal of Nursing Education, 2017, v. 56, n. 1, p. 60, doi. 10.3928/01484834-20161219-12
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- Publication type:
- Article
Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.
- Published in:
- 2018
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- Publication type:
- Case Study
Intellectual disability genomics: current state, pitfalls and future challenges.
- Published in:
- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-08227-4
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- Publication type:
- Article
Quality of life of service users with chronic venous ulcers.
- Published in:
- 2013
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- Publication type:
- Journal Article
Qualidade de vida do utente com úlcera venosa crónica.
- Published in:
- Revista de Enfermagem Referência, 2013, n. 10, p. 109, doi. 10.12707/RIII1241
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- Publication type:
- Article
Ductal carcinoma in situ of the breast. Histologic categorization and its relationship to ploidy and immunohistochemical expression of hormone receptors, p53, and c-erbB-2 protein.
- Published in:
- 1995
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- Publication type:
- journal article
Reflections on the hysteretic damping model.
- Published in:
- Shock & Vibration, 2009, v. 16, n. 5, p. 529, doi. 10.1155/2009/674758
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- Publication type:
- Article
Special issue: International Conference on Engineering Dynamics - ICED 2007.
- Published in:
- Shock & Vibration, 2008, v. 15, n. 3/4, p. 205, doi. 10.1155/2008/821648
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- Publication type:
- Article
Damage Detection on a Beam with Multiple Cracks: A Simplified Method Based on Relative Frequency Shifts †.
- Published in:
- Sensors (14248220), 2021, v. 21, n. 15, p. 5215, doi. 10.3390/s21155215
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- Publication type:
- Article
Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB.
- Published in:
- Clinical Case Reports, 2020, v. 8, n. 12, p. 2476, doi. 10.1002/ccr3.3146
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- Publication type:
- Article
Model Uncertainty Approach to Aircraft Angular Rate Estimation Using Kalman - Bucy Filtering.
- Published in:
- International Review of Aerospace Engineering, 2011, v. 4, n. 6, p. 307
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- Publication type:
- Article
Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-93473-5
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- Publication type:
- Article
Elastically restrained Bernoulli-Euler beams applied to rotary machinery modelling.
- Published in:
- Acta Mechanica Sinica, 2011, v. 27, n. 1, p. 56, doi. 10.1007/s10409-011-0401-8
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- Publication type:
- Article
A New Approach for Severity Estimation of Transversal Cracks in Multi-layered Beams.
- Published in:
- Latin American Journal of Solids & Structures, 2016, v. 13, n. 8, p. 1526, doi. 10.1590/1679-78252541
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- Publication type:
- Article
Early Structural Damage Assessment by Using an Improved Frequency Evaluation Algorithm.
- Published in:
- Latin American Journal of Solids & Structures, 2015, v. 12, n. 12, p. 2311, doi. 10.1590/1679-78251795
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- Publication type:
- Article
Euromelanoma em Portugal 2010 a 2016.
- Published in:
- Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2017, v. 75, n. 4, p. 345, doi. 10.29021/spdv.75.4.873
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- Publication type:
- Article
Experimental Evidence of Efficient Phononic-Based Vibration Isolators for Mechanical Applications.
- Published in:
- Machines, 2024, v. 12, n. 7, p. 431, doi. 10.3390/machines12070431
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- Publication type:
- Article
Identity and Extensionality in Boffa Set Theory.
- Published in:
- Philosophia Mathematica, 2024, v. 32, n. 1, p. 115, doi. 10.1093/philmat/nkad025
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- Publication type:
- Article
Experimental Shock and Vibration Analysis.
- Published in:
- Shock & Vibration, 2015, p. 1, doi. 10.1155/2015/796736
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- Publication type:
- Article
International Conference on Structural Engineering Dynamics 2013.
- Published in:
- Shock & Vibration, 2014, p. 1, doi. 10.1155/2014/645026
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- Publication type:
- Article
Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis.
- Published in:
- Genes, 2022, v. 13, n. 3, p. 419, doi. 10.3390/genes13030419
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- Publication type:
- Article
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
- Published in:
- Genes, 2022, v. 13, n. 1, p. 78, doi. 10.3390/genes13010078
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- Publication type:
- Article
Conceptual Design of an Unmanned Electrical Amphibious Vehicle for Ocean and Land Surveillance.
- Published in:
- World Electric Vehicle Journal, 2024, v. 15, n. 7, p. 279, doi. 10.3390/wevj15070279
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- Publication type:
- Article