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Evaluation of First-Trimester Physiological Midgut Herniation Using Three-Dimensional Ultrasound.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death.
- Published in:
- Pediatric & Developmental Pathology, 2018, v. 21, n. 1, p. 54, doi. 10.1177/1093526617715528
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- Publication type:
- Article
Isolated Ventricular Noncompaction Cardiomyopathy Presenting as Fetal Hydrops at 24 Weeks Gestation: A Genomic Analysis.
- Published in:
- Pediatric & Developmental Pathology, 2017, v. 20, n. 3, p. 245, doi. 10.1177/1093526616686235
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- Publication type:
- Article
Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-15279-3
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- Publication type:
- Article
Evaluation of Immunohistochemical Markers, CK17 and SOX2, as Adjuncts to p53 for the Diagnosis of Differentiated Vulvar Intraepithelial Neoplasia (dVIN).
- Published in:
- Pharmaceuticals (14248247), 2021, v. 14, n. 4, p. 324, doi. 10.3390/ph14040324
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- Publication type:
- Article
Accuracy of fetal sex determination in the first trimester of pregnancy using 3D virtual reality ultrasound.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Design and validation of a 3D virtual reality desktop system for sonographic length and volume measurements in early pregnancy evaluation.
- Published in:
- Journal of Clinical Ultrasound, 2015, v. 43, n. 3, p. 164, doi. 10.1002/jcu.22207
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- Publication type:
- Article
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Transcriptome analysis reveals cyclobutane pyrimidine dimers as a major source of UV-induced DNA breaks.
- Published in:
- EMBO Journal, 2005, v. 24, n. 22, p. 3952, doi. 10.1038/sj.emboj.7600849
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- Publication type:
- Article
Identification of BCAR3 by a random search for genes involved in antiestrogen resistance of human breast cancer cells.
- Published in:
- EMBO Journal, 1998, v. 17, n. 10, p. 2799, doi. 10.1093/emboj/17.10.2799
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- Publication type:
- Article
Natural population dynamics and expansion of pathogenic clones of Staphylococcus aureus.
- Published in:
- 2004
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- Publication type:
- Abstract
First trimester physiological development of the fetal foot position using three‐dimensional ultrasound in virtual reality.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 2, p. 280, doi. 10.1111/jog.13862
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- Publication type:
- Article
CRISPRs in the human genome are differentially expressed between malignant and normal adjacent to tumor tissue.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03249-4
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- Publication type:
- Article
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
- Published in:
- Human Genetics, 2023, v. 142, n. 3, p. 379, doi. 10.1007/s00439-022-02511-3
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- Publication type:
- Article
Metabolomic Signatures for the Effects of Weight Loss Interventions on Severe Obesity in Children and Adolescents.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 1, p. 27, doi. 10.3390/metabo12010027
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- Publication type:
- Article
Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D846, doi. 10.1093/nar/gkw949
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- Publication type:
- Article
Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 8, p. 1049, doi. 10.1002/ajmg.b.32473
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- Publication type:
- Article
Identification of candidate genes for developmental colour agnosia in a single unique family.
- Published in:
- PLoS ONE, 2023, v. 18, n. 9, p. 1, doi. 10.1371/journal.pone.0290013
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- Publication type:
- Article
A novel mutation in FGFR2.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 123, doi. 10.1002/ajmg.a.36827
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- Publication type:
- Article
Boston type craniosynostosis: Report of a second mutation in MSX2.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2626, doi. 10.1002/ajmg.a.36126
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- Publication type:
- Article
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 244, doi. 10.1002/ajmg.a.35632
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- Publication type:
- Article
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.
- Published in:
- Nature Genetics, 2010, v. 42, n. 9, p. 801, doi. 10.1038/ng.630
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- Publication type:
- Article
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
- Published in:
- Nature Genetics, 1999, v. 23, n. 4, p. 462, doi. 10.1038/70585
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- Publication type:
- Article
Thyroid State Regulates Gene Expression in Human Whole Blood.
- Published in:
- 2017
- By:
- Publication type:
- journal article
ImmunoGlobulin galaxy (IGGalaxy) for simple determination and quantitation of immunoglobulin heavy chain rearrangements from NGS.
- Published in:
- BMC Immunology, 2014, v. 15, n. 1, p. 44, doi. 10.1186/s12865-014-0059-7
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- Publication type:
- Article
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
- Published in:
- 2017
- By:
- Publication type:
- Correction Notice
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 5, p. 1, doi. 10.1371/journal.pgen.1006809
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- Publication type:
- Article
Fusion transcripts and their genomic breakpoints in polyadenylated and ribosomal RNA–minus RNA sequencing data.
- Published in:
- GigaScience, 2021, v. 10, n. 12, p. 1, doi. 10.1093/gigascience/giab080
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- Publication type:
- Article
Galaxy mothur Toolset (GmT): a user-friendly application for 16S rRNA gene sequencing analysis using mothur.
- Published in:
- GigaScience, 2019, v. 8, n. 2, p. N.PAG, doi. 10.1093/gigascience/giy166
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- Publication type:
- Article
Fatigue in Sjögren's Syndrome: A Search for Biomarkers and Treatment Targets.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00312
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- Publication type:
- Article
Comparison of Mouse and Human Retinal Pigment Epithelium Gene Expression Profiles: Potential Implications for Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141597
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- Publication type:
- Article
Gene Expression and Functional Annotation of the Human and Mouse Choroid Plexus Epithelium.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083345
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- Publication type:
- Article
Microarray and Morphological Analysis of Early Postnatal CRB2 Mutant Retinas on a Pure C57BL/6J Genetic Background.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082532
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- Publication type:
- Article
Gene Expression Analysis of Peripheral Cells for Subclassification of Pediatric Inflammatory Bowel Disease in Remission.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079549
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- Publication type:
- Article
Gene Expression and Functional Annotation of the Human Ciliary Body Epithelia.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044973
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- Publication type:
- Article
Impaired Vascular Contractility and Aortic Wall Degeneration in Fibulin-4 Deficient Mice: Effect of Angiotensin II Type 1 (AT<sub>1</sub>) Receptor Blockade.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023411
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- Publication type:
- Article
A New Strategy to Identify and Annotate Human RPE-Specific Gene Expression.
- Published in:
- PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0009341
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- Publication type:
- Article
Physiological Thyroid Hormone Levels Regulate Numerous Skeletal Muscle Transcripts.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 9, p. 3487, doi. 10.1210/jc.2009-0782
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- Publication type:
- Article
A Novel Text-Mining Approach for Retrieving Pharmacogenomics Associations From the Literature.
- Published in:
- Frontiers in Pharmacology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphar.2020.602030
- By:
- Publication type:
- Article
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
- Published in:
- Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00614
- By:
- Publication type:
- Article
Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies.
- Published in:
- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.02079
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- Publication type:
- Article
Molecular clustering of genes related to the atopic syndrome: Towards a more tailored approach and personalized medicine?
- Published in:
- Clinical & Translational Allergy, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13601-019-0273-8
- By:
- Publication type:
- Article
Exploring Differentially Methylated Genes in Vulvar Squamous Cell Carcinoma.
- Published in:
- Cancers, 2021, v. 13, n. 14, p. 3580, doi. 10.3390/cancers13143580
- By:
- Publication type:
- Article
Collagenase matrix metalloproteinase-8 expressed in atherosclerotic carotid plaques is associated with systemic cardiovascular outcome.
- Published in:
- European Heart Journal, 2011, v. 32, n. 18, p. 2314, doi. 10.1093/eurheartj/ehq517
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- Publication type:
- Article
Adipocyte fatty acid binding protein in atherosclerotic plaques is associated with local vulnerability and is predictive for the occurrence of adverse cardiovascular events.
- Published in:
- European Heart Journal, 2011, v. 32, n. 14, p. 1758, doi. 10.1093/eurheartj/ehq387
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- Publication type:
- Article
Functional annotation of the human retinal pigment epithelium transcriptome.
- Published in:
- BMC Genomics, 2009, v. 10, p. 1, doi. 10.1186/1471-2164-10-164
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- Publication type:
- Article
SNPExpress: integrated visualization of genome-wide genotypes, copy numbers and gene expression levels.
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-41
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- Publication type:
- Article
HeatMapper: powerful combined visualization of gene expression profile correlations, genotypes, phenotypes and sample characteristics.
- Published in:
- BMC Bioinformatics, 2006, v. 7, p. 337, doi. 10.1186/1471-2105-7-337
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- Publication type:
- Article
A multidisciplinary review of triphalangeal thumb.
- Published in:
- Journal of Hand Surgery (17531934), 2019, v. 44, n. 1, p. 59, doi. 10.1177/1753193418803521
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- Publication type:
- Article
XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes.
- Published in:
- Nucleic Acids Research, 1996, v. 24, n. 13, p. 2551, doi. 10.1093/nar/24.13.2551
- By:
- Publication type:
- Article