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Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Sensitivity filtering from the non-local perspective.
- Published in:
- Structural & Multidisciplinary Optimization, 2019, v. 60, n. 1, p. 401, doi. 10.1007/s00158-019-02303-w
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- Publication type:
- Article
On reducing computational effort in topology optimization: we can go at least this far!
- Published in:
- Structural & Multidisciplinary Optimization, 2018, v. 58, n. 6, p. 2481, doi. 10.1007/s00158-018-2121-1
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- Publication type:
- Article
Editorial note for the special issue: “Selected papers from 12th World Congress on Structural and Multidisciplinary Optimization”.
- Published in:
- Structural & Multidisciplinary Optimization, 2018, v. 57, n. 5, p. 1829, doi. 10.1007/s00158-018-1977-4
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- Publication type:
- Article
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.
- Published in:
- Human Genetics, 2004, v. 114, n. 6, p. 527, doi. 10.1007/s00439-004-1102-1
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- Publication type:
- Article
Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome.
- Published in:
- Translational Psychiatry, 2013, v. 3, n. 10, p. 1, doi. 10.1038/tp.2013.91
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- Publication type:
- Article
Non-coding RNAs derived from an alternatively spliced REST transcript (REST-003) regulate breast cancer invasiveness.
- Published in:
- Scientific Reports, 2015, p. 11207, doi. 10.1038/srep11207
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- Publication type:
- Article
ISOGEOMETRIC SHAPE OPTIMIZATION FOR ELECTROMAGNETIC SCATTERING PROBLEMS.
- Published in:
- Progress in Electromagnetics Research B, 2012, v. 45, p. 117, doi. 10.2528/pierb12091308
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- Publication type:
- Article
Transcriptional Gene Silencing of the Autism-Associated Long Noncoding RNA MSNP1AS in Human Neural Progenitor Cells.
- Published in:
- Developmental Neuroscience, 2017, v. 38, n. 5, p. 375, doi. 10.1159/000453258
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- Publication type:
- Article
GHD. HYPOPITUITARISM. KIGS.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2000, v. 13, p. 1520, doi. 10.1515/jpem-2000-s628
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- Publication type:
- Article
Simulating cyclic voltammetry under advection for electrochemical cantilevers.
- Published in:
- Mathematical Methods in the Applied Sciences, 2015, v. 38, n. 16, p. 3384, doi. 10.1002/mma.3336
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- Publication type:
- Article
On the Existence of Solutions to Stochastic Mathematical Programs with Equilibrium Constraints.
- Published in:
- Journal of Optimization Theory & Applications, 2004, v. 121, n. 1, p. 65, doi. 10.1023/B:JOTA.0000026131.04418.b7
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- Publication type:
- Article
Collateral Resistance and Sensitivity Modulate Evolution of High-Level Resistance to Drug Combination Treatment in Staphylococcus aureus.
- Published in:
- Molecular Biology & Evolution, 2015, v. 32, n. 5, p. 1175, doi. 10.1093/molbev/msv006
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- Publication type:
- Article
A Mutational Hot Spot in the Prop-1 Gene in Russian Children with Combined Pituitary Hormone Deficiency.
- Published in:
- Pituitary, 1998, v. 1, n. 1, p. 45, doi. 10.1023/A:1009918924945
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- Publication type:
- Article
Localization of the Gene Responsible for Familial Benign Polycythemia to Chromosome 11q23.
- Published in:
- Human Heredity, 1999, v. 49, n. 3, p. 129, doi. 10.1159/000022859
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- Publication type:
- Article
Genomewide suggestive linkage of opioid dependence to chromosome 14q.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 11, p. 1327, doi. 10.1093/hmg/ddm081
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- Publication type:
- Article
Analysis of Gene Expression Variance in Schizophrenia Using Structural Equation Modeling.
- Published in:
- Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00192
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- Publication type:
- Article
Inhibiting Phosphatidylcholine Remodeling in Adipose Tissue Increases Insulin Sensitivity.
- Published in:
- Diabetes, 2023, v. 72, n. 11, p. 1547, doi. 10.2337/db23-0317
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- Publication type:
- Article
Cultured Mesenchymal Cells from Nasal Turbinate as a Cellular Model of the Neurodevelopmental Component of Schizophrenia Etiology.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 20, p. 15339, doi. 10.3390/ijms242015339
- By:
- Publication type:
- Article
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 646, doi. 10.1038/sj.ejhg.5200686
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- Publication type:
- Article
Letter.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 2, p. 151, doi. 10.1038/sj.ejhg.5200596
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- Publication type:
- Article
Letter.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 2, p. 150, doi. 10.1038/sj.ejhg.5200611
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- Publication type:
- Article
EphA7 regulates spiral ganglion innervation of cochlear hair cells.
- Published in:
- Developmental Neurobiology (19328451), 2016, v. 76, n. 4, p. 452, doi. 10.1002/dneu.22326
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- Publication type:
- Article
Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
- Published in:
- 2004
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- Publication type:
- Correction notice
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
- Published in:
- Nature Genetics, 2004, v. 36, n. 6, p. 602, doi. 10.1038/ng1354
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- Publication type:
- Article
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
- Published in:
- Nature Genetics, 2004, v. 36, n. 5, p. 449, doi. 10.1038/ng1341
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- Publication type:
- Article
P20-1 A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12Q24.
- Published in:
- 2004
- By:
- Publication type:
- Abstract
Non-ST-Elevation Myocardial Infarction with Non-significant Coronary Artery Disease as a Symptom of Occult or New Malignancy.
- Published in:
- Israel Medical Association Journal, 2019, v. 21, n. 6, p. 381
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- Publication type:
- Article
Assessing characteristics of RNA amplification methods for single cell RNA sequencing.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3300-3
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- Publication type:
- Article
The Conserved SKN-1/Nrf2 Stress Response Pathway Regulates Synaptic Function in Caenorhabditis elegans.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 3, p. 1, doi. 10.1371/journal.pgen.1003354
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- Publication type:
- Article
Cell Type Catalog of Middle Turbinate Epithelium (Cell Catalog of Turbinate Epithelium).
- Published in:
- OTO Open: The Official Open Access Journal of the American Academy of Otolaryngology Head & Neck Surgery Foundation, 2023, v. 7, n. 4, p. 1, doi. 10.1002/oto2.91
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- Publication type:
- Article
Evidence for Linkage and Association of GABRB3 and GABRA5 to Panic Disorder.
- Published in:
- Neuropsychopharmacology, 2014, v. 39, n. 10, p. 2423, doi. 10.1038/npp.2014.92
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- Publication type:
- Article
Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain.
- Published in:
- Scientific Data, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41597-020-0527-2
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- Publication type:
- Article
Sponge Microbiota Are a Reservoir of Functional Antibiotic Resistance Genes.
- Published in:
- Frontiers in Microbiology, 2016, v. 7, p. 1, doi. 10.3389/fmicb.2016.01848
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- Publication type:
- Article
Impact of the Autism-Associated Long Noncoding RNA MSNP1AS on Neuronal Architecture and Gene Expression in Human Neural Progenitor Cells.
- Published in:
- Genes, 2016, v. 7, n. 10, p. 76, doi. 10.3390/genes7100076
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- Publication type:
- Article
Prenatal DNA diagnosis on demand - a possible new approach to DNA service provision.
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 10, p. 989, doi. 10.1002/(SICI)1097-0223(199710)17:10<989::AID-PD177>3.0.CO;2-M
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- Publication type:
- Article
Prenatal diagnosis of spinal muscular atrophy in Russia.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia.
- Published in:
- 1993
- By:
- Publication type:
- journal article
Determining Caprylate Ions in a 10% Albumin Solution for Infusions by Ion-Exclusion Chromatography.
- Published in:
- Pharmaceutical Chemistry Journal, 2004, v. 38, n. 5, p. 277, doi. 10.1023/B:PHAC.0000042096.85282.40
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- Publication type:
- Article
Genome-wide association study of recurrent early-onset major depressive disorder.
- Published in:
- Molecular Psychiatry, 2011, v. 16, n. 2, p. 193, doi. 10.1038/mp.2009.124
- By:
- Publication type:
- Article
Association of SLC6A4 variants with obsessive-compulsive disorder in a large multicenter US family study.
- Published in:
- Molecular Psychiatry, 2011, v. 16, n. 1, p. 108, doi. 10.1038/mp.2009.100
- By:
- Publication type:
- Article
The Limits of Porous Materials in the Topology Optimization of Stokes Flows.
- Published in:
- Applied Mathematics & Optimization, 2005, v. 52, n. 3, p. 263, doi. 10.1007/S00245-005-0828-Z
- By:
- Publication type:
- Article
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.
- Published in:
- Nature Genetics, 2002, v. 30, n. 3, p. 335, doi. 10.1038/ng832
- By:
- Publication type:
- Article
A Novel IVS2 −2A>T Splicing Mutation in the GH-1 Gene in Familial Isolated Growth Hormone Deficiency Type II in the Spectrum of Other Splicing Mutations in the Russian Population.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 2, p. 820, doi. 10.1210/jc.2002-020269
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- Publication type:
- Article
Unambiguous Reliable Reference in Multirange Measuring Systems.
- Published in:
- Solar System Research, 2019, v. 53, n. 7, p. 631, doi. 10.1134/S0038094619070086
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- Publication type:
- Article
On Determining Surface Elevation Using a Synthetic-Aperture Radar in the Monostatic Noncoherent Mode.
- Published in:
- Solar System Research, 2019, v. 53, n. 7, p. 571, doi. 10.1134/S0038094619070074
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- Publication type:
- Article
Ballistics and navigation of the flight and descent of the ExoMars-2018 landing module.
- Published in:
- Solar System Research, 2015, v. 49, n. 7, p. 543, doi. 10.1134/S0038094615070060
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- Publication type:
- Article
Enhancement of on-board forecasting accuracy of GEO SC COG motion using the compensative transversal acceleration.
- Published in:
- Solar System Research, 2011, v. 45, n. 7, p. 584, doi. 10.1134/S0038094611070070
- By:
- Publication type:
- Article
YPK9 and WHI2 Negatively Interact during Oxidative Stress.
- Published in:
- Microorganisms, 2021, v. 9, n. 12, p. 2584, doi. 10.3390/microorganisms9122584
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- Publication type:
- Article
Modern Approaches to the Analysis of Kelp (Laminaria sp.) as Pharmacopoeial Herbal Drugs and Food Products.
- Published in:
- Pharmacognosy Journal, 2020, v. 12, n. 4, p. 929, doi. 10.5530/pj.2020.12.132
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- Publication type:
- Article