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A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The regulatory roles of VEGF‐Notch signaling pathway on aplastic anemia with kidney deficiency and blood stasis.
- Published in:
- Journal of Cellular Biochemistry, 2019, v. 120, n. 2, p. 2078, doi. 10.1002/jcb.27516
- By:
- Publication type:
- Article
The regulatory roles of VEGF‐Notch signaling pathway on aplastic anemia with kidney deficiency and blood stasis.
- Published in:
- Journal of Cellular Biochemistry, 2019, v. 120, n. 2, p. 2078, doi. 10.1002/jcb.27516
- By:
- Publication type:
- Article
Mowat–Wilson syndrome: the first report of an association with central nervous system tumors.
- Published in:
- Child's Nervous System, 2013, v. 29, n. 12, p. 2151, doi. 10.1007/s00381-013-2283-5
- By:
- Publication type:
- Article
A behavioral defect of temporal association memory in mice that partly lack dopamine reuptake transporter.
- Published in:
- Scientific Reports, 2015, p. 17461, doi. 10.1038/srep17461
- By:
- Publication type:
- Article
An improved time-varying mesh stiffness calculation method and dynamic characteristic analysis for helical gears under variable torque conditions.
- Published in:
- Advances in Mechanical Engineering (Sage Publications Inc.), 2023, v. 15, n. 10, p. 1, doi. 10.1177/16878132231203132
- By:
- Publication type:
- Article
Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population.
- Published in:
- BMC Medical Genomics, 2016, p. 1, doi. 10.1186/s12920-015-0163-4
- By:
- Publication type:
- Article
Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
- Published in:
- Journal of Bone & Mineral Research, 2016, v. 31, n. 4, p. 882, doi. 10.1002/jbmr.2761
- By:
- Publication type:
- Article
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1898-1
- By:
- Publication type:
- Article
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 22, doi. 10.1186/1471-2164-15-1127
- By:
- Publication type:
- Article
A Genome-Wide Search for Signals of High-Altitude Adaptation in Tibetans.
- Published in:
- Molecular Biology & Evolution, 2011, v. 28, n. 2, p. 1003
- By:
- Publication type:
- Article
Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review.
- Published in:
- International Journal of Developmental Neuroscience, 2022, v. 82, n. 1, p. 96, doi. 10.1002/jdn.10154
- By:
- Publication type:
- Article
Acute rhabdomyolysis in hepatitis-associated aplastic anemia patient undergoing allogeneic hematopoietic stem-cell transplantation: case report and literature review.
- Published in:
- European Journal of Medical Research, 2022, v. 27, n. 1, p. 1, doi. 10.1186/s40001-022-00675-2
- By:
- Publication type:
- Article
Dynamic modeling and analysis of the large-scale rotary machine with multi-supporting.
- Published in:
- Shock & Vibration, 2011, v. 18, n. 1/2, p. 53, doi. 10.1155/2011/541049
- By:
- Publication type:
- Article
Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2642, doi. 10.1093/hmg/ddt113
- By:
- Publication type:
- Article
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1816, doi. 10.1093/hmg/ddt035
- By:
- Publication type:
- Article
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 24, p. 5239, doi. 10.1093/hmg/dds370
- By:
- Publication type:
- Article
Association between MTHFR Gene Polymorphisms and the Risk of Autism Spectrum Disorders: A Meta-Analysis.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2013, v. 6, n. 5, p. 384, doi. 10.1002/aur.1300
- By:
- Publication type:
- Article
Identification of acetyl-CoA carboxylase alpha as a prognostic and targeted candidate for hepatocellular carcinoma.
- Published in:
- Clinical & Translational Oncology, 2023, v. 25, n. 8, p. 2499, doi. 10.1007/s12094-023-03137-1
- By:
- Publication type:
- Article
Influence of the PZT Sensor Array Configuration on Lamb Wave Tomography Imaging with the RAPID Algorithm for Hole and Crack Detection.
- Published in:
- Sensors (14248220), 2020, v. 20, n. 3, p. 860, doi. 10.3390/s20030860
- By:
- Publication type:
- Article
Copy number variation plays an important role in clinical epilepsy.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 6, p. 943, doi. 10.1002/ana.24178
- By:
- Publication type:
- Article
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 4, p. 857, doi. 10.3390/ijms18040857
- By:
- Publication type:
- Article
Autistic Children Exhibit Decreased Levels of Essential Fatty Acids in Red Blood Cells.
- Published in:
- International Journal of Molecular Sciences, 2015, v. 16, n. 5, p. 10061, doi. 10.3390/ijms160510061
- By:
- Publication type:
- Article
Constant‐wavelength synchronous fluorescence spectrometry for simultaneous and rapid determination of five polycyclic aromatic hydrocarbon residues in dairy products.
- Published in:
- Luminescence: Journal of Biological & Chemical Luminescence, 2021, v. 36, n. 2, p. 353, doi. 10.1002/bio.3950
- By:
- Publication type:
- Article
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
- Published in:
- Nature, 2011, v. 478, n. 7367, p. 97, doi. 10.1038/nature10406
- By:
- Publication type:
- Article
Dynamic Analysis of Tapered Thin-Walled Beams Using Spectral Finite Element Method.
- Published in:
- Shock & Vibration, 2019, p. 1, doi. 10.1155/2019/2174209
- By:
- Publication type:
- Article
Differentiation of Yin, Yang and Stasis Syndromes in Severe Aplastic Anemia Patients Undergoing Allogeneic Hematopoietic Stem Cell Transplantation and Their Correlation with Iron Metabolism, cAMP/cGMP, 17-OH-CS and Thyroxine.
- Published in:
- Journal of Blood Medicine, 2021, v. 12, p. 975, doi. 10.2147/JBM.S332171
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- Publication type:
- Article
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children.
- Published in:
- Genes, 2019, v. 10, n. 11, p. 847, doi. 10.3390/genes10110847
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- Publication type:
- Article
Successful Treatment of an AML Patient Infected with Hypervirulent ST463 Pseudomonas Aeruginosa Harboring Rare Carbapenem-Resistant Genes blaAFM-1 and blaKPC-2 Following Allogeneic Hematopoietic Stem Cell Transplantation.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review.
- Published in:
- Infection & Drug Resistance, 2021, v. 14, p. 1311, doi. 10.2147/IDR.S305825
- By:
- Publication type:
- Article
Intelligent Diagnosis Model of Traction Seat of Urban Rail Vehicle Based on Harris Hawks Optimization.
- Published in:
- Journal of Sensors, 2022, p. 1, doi. 10.1155/2022/2087809
- By:
- Publication type:
- Article
Comprehensive Evaluation Model of Bearing Transportation Protection Effect of Bogie Traction Motor under Data Imbalance.
- Published in:
- Journal of Sensors, 2021, p. 1, doi. 10.1155/2021/4690369
- By:
- Publication type:
- Article
The Effect of Piezoelectric Fiber Rosette Configurations on Lamb Wave Direction Detection for Damage Localization.
- Published in:
- Journal of Sensors, 2021, p. 1, doi. 10.1155/2021/9918049
- By:
- Publication type:
- Article
Dystrophin is a tumor suppressor in human cancers with myogenic programs.
- Published in:
- Nature Genetics, 2014, v. 46, n. 6, p. 601, doi. 10.1038/ng.2974
- By:
- Publication type:
- Article
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 390, doi. 10.1038/ng.2202
- By:
- Publication type:
- Article
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development.
- Published in:
- European Journal of Endocrinology, 2019, v. 181, n. 3, p. 311, doi. 10.1530/EJE-19-0111
- By:
- Publication type:
- Article
Apolipoprotein-A is a potential prognostic biomarker for severe aplastic anemia patients treated with ATG-based immunosuppressive therapy: a single-center retrospective study.
- Published in:
- Lipids in Health & Disease, 2022, v. 21, n. 1, p. 1, doi. 10.1186/s12944-022-01703-0
- By:
- Publication type:
- Article
Circadian gene CSNK1D promoted the progression of hepatocellular carcinoma by activating Wnt/β-catenin pathway via stabilizing Dishevelled Segment Polarity Protein 3.
- Published in:
- Biological Procedures Online, 2022, v. 24, n. 1, p. 1, doi. 10.1186/s12575-022-00183-x
- By:
- Publication type:
- Article
GAP-43 dependency defines distinct effects of netrin-1 on cortical and spinal neurite outgrowth and directional guidance
- Published in:
- International Journal of Developmental Neuroscience, 2013, v. 31, n. 1, p. 11, doi. 10.1016/j.ijdevneu.2012.10.006
- By:
- Publication type:
- Article
Fault Diagnosis of Vibration Sensors Based on Triage Loss Function-Improved XGBoost.
- Published in:
- Electronics (2079-9292), 2023, v. 12, n. 21, p. 4442, doi. 10.3390/electronics12214442
- By:
- Publication type:
- Article
Evolution of Flow and Streaming in Exponential Variable Cross-Section Resonators.
- Published in:
- Applied Sciences (2076-3417), 2020, v. 10, n. 5, p. 1694, doi. 10.3390/app10051694
- By:
- Publication type:
- Article
Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.743833
- By:
- Publication type:
- Article
A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.717294
- By:
- Publication type:
- Article
An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.582637
- By:
- Publication type:
- Article
Whole Exome Sequencing to Identify Genetic Causes of Short Stature.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 1, p. 44, doi. 10.1159/000360857
- By:
- Publication type:
- Article
The portrayal of people with dwarfism in Chinese art.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 192, doi. 10.1002/ajmg.c.31906
- By:
- Publication type:
- Article
Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 218, doi. 10.1002/ajmg.c.31698
- By:
- Publication type:
- Article
The rise of the genetic counseling profession in China.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 170, doi. 10.1002/ajmg.c.31693
- By:
- Publication type:
- Article