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Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00684-8
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- Publication type:
- Article
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13439, doi. 10.3390/ijms222413439
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- Publication type:
- Article
Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 3, p. 306, doi. 10.3390/ijms17030306
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- Publication type:
- Article
From Bivariate to Multivariate Analysis of Cytometric Data: Overview of Computational Methods and Their Application in Vaccination Studies.
- Published in:
- Vaccines, 2020, v. 8, n. 1, p. 138, doi. 10.3390/vaccines8010138
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- Publication type:
- Article
DNA-recognition process described by MD simulations of the lactose repressor protein on a specific and a non-specific DNA sequence.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 7, p. 3963, doi. 10.1093/nar/gkt099
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- Publication type:
- Article
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 284, doi. 10.1002/ajmg.a.62984
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- Publication type:
- Article
Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine.
- Published in:
- Cancer Research & Treatment, 2018, v. 50, n. 2, p. 356, doi. 10.4143/crt.2017.125
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- Publication type:
- Article
Resource-aware construct design in mammalian cells.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39252-4
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- Publication type:
- Article
Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056599
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- Publication type:
- Article
Permeation of water through the KcsA K<sup>+</sup> channel.
- Published in:
- Proteins, 2009, v. 74, n. 2, p. 437, doi. 10.1002/prot.22163
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- Publication type:
- Article
A straightforward approach to designing a scoring system for predicting length-of-stay of cardiac surgery patients.
- Published in:
- BMC Medical Informatics & Decision Making, 2014, v. 14, n. 1, p. 89, doi. 10.1186/1472-6947-14-89
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- Publication type:
- Article
A straightforward approach to designing a scoring system for predicting length-of-stay of cardiac surgery patients.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 936, doi. 10.3390/brainsci11070936
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- Publication type:
- Article
Clinical and molecular characterization of COVID-19 hospitalized patients.
- Published in:
- PLoS ONE, 2020, v. 15, n. 11, p. 1, doi. 10.1371/journal.pone.0242534
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- Publication type:
- Article
Expression and Role of Heparan Sulfated Proteoglycans in Pancreatic Cancer.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. 1, doi. 10.3389/fonc.2021.695858
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- Publication type:
- Article
Identification via Numerical Computation of Transcriptional Determinants of a Cell Phenotype Decision Making.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00575
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- Publication type:
- Article
Reliable measurement of E. coli single cell fluorescence distribution using a standard microscope set-up.
- Published in:
- Journal of Biological Engineering, 2017, v. 11, p. 1, doi. 10.1186/s13036-017-0050-y
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- Publication type:
- Article
Rational design of modular circuits for genetranscription: A test of the bottom-up approach.
- Published in:
- Journal of Biological Engineering, 2010, v. 4, p. 14, doi. 10.1186/1754-1611-4-14
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- Publication type:
- Article
SPTBN5 , Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.877258
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- Publication type:
- Article
On Conduction in a Bacterial Sodium Channel.
- Published in:
- PLoS Computational Biology, 2012, v. 8, n. 4, p. 1, doi. 10.1371/journal.pcbi.1002476
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- Publication type:
- Article
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.
- Published in:
- Brazilian Journal of Psychiatry / Revista Brasileira de Psiquiatria, 2023, v. 45, n. 1, p. 11, doi. 10.47626/1516-4446-2022-2650
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- Publication type:
- Article
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 24, p. 4096, doi. 10.3390/cells11244096
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- Publication type:
- Article
Induction of NO synthase 2 in ventricular cardiomyocytes incubated with a conventional bicarbonate dialysis bath.
- Published in:
- Nephrology Dialysis Transplantation, 2008, v. 23, n. 7, p. 2192, doi. 10.1093/ndt/gfn020
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- Publication type:
- Article
Phenotypic Variability in Synthetic Biology Applications: Dealing with Noise in Microbial Gene Expression.
- Published in:
- Frontiers in Microbiology, 2016, p. 1, doi. 10.3389/fmicb.2016.00479
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- Publication type:
- Article
A naïve approach for deriving scoring systems to support clinical decision making.
- Published in:
- 2014
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- Publication type:
- Journal Article
A naïve approach for deriving scoring systems to support clinical decision making.
- Published in:
- Journal of Evaluation in Clinical Practice, 2014, v. 20, n. 1, p. 1, doi. 10.1111/jep.12064
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- Publication type:
- Article
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 596, doi. 10.3390/genes12040596
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- Publication type:
- Article
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males.
- Published in:
- 2023
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- Publication type:
- Correction Notice
SELP Asp603Asn and severe thrombosis in COVID-19 males.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Different relevance of inactivation and F468 residue in the mechanisms of hEag1 channel blockage by astemizole, imipramine and dofetilide
- Published in:
- FEBS Letters, 2006, v. 580, n. 21, p. 5059, doi. 10.1016/j.febslet.2006.08.030
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- Publication type:
- Article
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 11, p. 1, doi. 10.1371/journal.pgen.1010367
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- Publication type:
- Article
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1362469
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- Publication type:
- Article