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Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications.
- Published in:
- eLife, 2024, p. 1, doi. 10.7554/eLife.92599
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- Article
Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6.
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- FASEB Journal, 2014, v. 28, n. 5, p. 2293, doi. 10.1096/fj.13-246363
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- Publication type:
- Article
Down-regulation of progesterone receptormembrane component 1 (PGRMC1) in peripheralnucleated blood cells associated with prematureovarian failure (POF) and polycystic ovarysyndrome (PCOS).
- Published in:
- Reproductive Biology & Endocrinology, 2010, v. 8, p. 58, doi. 10.1186/1477-7827-8-58
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- Publication type:
- Article
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.
- Published in:
- Neurogenetics, 2011, v. 12, n. 1, p. 65, doi. 10.1007/s10048-010-0269-y
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- Publication type:
- Article
A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.
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- Journal of Human Genetics, 2008, v. 53, n. 10, p. 894, doi. 10.1007/s10038-008-0323-x
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- Publication type:
- Article
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3776, doi. 10.1093/hmg/ddn274
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- Publication type:
- Article
Human serum-derived protein removes the need for coating in defined human pluripotent stem cell culture.
- Published in:
- Nature Communications, 2016, v. 7, n. 7, p. 12170, doi. 10.1038/ncomms12170
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- Article
Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 10, p. 7113, doi. 10.1007/s12035-019-1585-3
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- Article
WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1600, doi. 10.1038/ejhg.2009.81
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- Article
59'UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability.
- Published in:
- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017672
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- Article
Targeted Resequencing and Analysis of the Diamond- Blackfan Anemia Disease Locus RPS19.
- Published in:
- PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006172
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- Publication type:
- Article
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0803-1
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- Publication type:
- Article
A combined approach for single-cell mRNA and intracellular protein expression analysis.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02142-w
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- Article
Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.
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- International Journal of Hematology, 2020, v. 112, n. 6, p. 894, doi. 10.1007/s12185-020-02950-6
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- Article
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-71
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- Article
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00896
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- Article
A universal method to produce in vitro transcripts with homogeneous 3′ ends.
- Published in:
- Nucleic Acids Research, 2002, v. 30, n. 12, p. e56
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- Publication type:
- Article
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 01, doi. 10.3389/fnmol.2022.988993
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- Article
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.
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- PLoS Genetics, 2017, v. 13, n. 7, p. 1, doi. 10.1371/journal.pgen.1006897
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- Publication type:
- Article
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.
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- Human Mutation, 2019, v. 40, n. 7, p. 899, doi. 10.1002/humu.23755
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- Article
Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity.
- Published in:
- Journal of Molecular Medicine, 2010, v. 88, n. 1, p. 39, doi. 10.1007/s00109-009-0558-9
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- Article
Is yeast on its way to evolving tRNA editing?
- Published in:
- 2005
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- Correction notice
Is yeast on its way to evolving tRNA editing?
- Published in:
- EMBO Reports, 2005, v. 6, n. 4, p. 367, doi. 10.1038/sj.embor.7400381
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- Article
Development and Characterization of Flax–Gypsum Composites.
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- Journal of Composites Science, 2024, v. 8, n. 1, p. 27, doi. 10.3390/jcs8010027
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- Publication type:
- Article
Development of " Cissus quadrangularis " Composite Material with Elevated Mechanical Properties and Thermal Stability.
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- Journal of Composites Science, 2023, v. 7, n. 11, p. 445, doi. 10.3390/jcs7110445
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- Publication type:
- Article
High-Pressure FDM 3D Printing in Nitrogen [Inert Gas] and Improved Mechanical Performance of Printed Components.
- Published in:
- Journal of Composites Science, 2023, v. 7, n. 4, p. 153, doi. 10.3390/jcs7040153
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- Article
Fabrication and Experimental Analysis of Bricks Using Recycled Plastics and Bitumen.
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- Journal of Composites Science, 2023, v. 7, n. 3, p. 1, doi. 10.3390/jcs7030111
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- Publication type:
- Article
Synthesis and Characterization of Carbon Fiber Nanocomposite Using Titanium Dioxide and Silicon Carbide Nanomaterials.
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- Journal of Composites Science, 2022, v. 6, n. 10, p. 312, doi. 10.3390/jcs6100312
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- Publication type:
- Article
Fabrication and Characterization of Hybrid Bio-Composites Using Braided Natural Fibers and Aligned Thermoplastic Filaments.
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- Journal of Composites Science, 2022, v. 6, n. 10, p. 291, doi. 10.3390/jcs6100291
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- Article
Manufacturing of Biocomposites for Domestic Applications Using Bio-Based Filler Materials.
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- Journal of Composites Science, 2022, v. 6, n. 3, p. 78, doi. 10.3390/jcs6030078
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- Publication type:
- Article
3D Printing under High Ambient Pressures and Improvement of Mechanical Properties of Printed Parts.
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- Journal of Composites Science, 2022, v. 6, n. 1, p. 16, doi. 10.3390/jcs6010016
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- Article
Effect of Autoclave Pressure and Temperature on Consolidation of Layers and Mechanical Properties of Additively Manufactured (FDM) Products with PLA.
- Published in:
- Journal of Manufacturing & Materials Processing, 2021, v. 5, n. 4, p. 114, doi. 10.3390/jmmp5040114
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- Publication type:
- Article
Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency
- Published in:
- FEBS Letters, 2009, v. 583, n. 12, p. 2049, doi. 10.1016/j.febslet.2009.05.023
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- Article