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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
Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.
- Published in:
- Clinical Neuropathology, 2014, v. 33, n. 3, p. 238, doi. 10.5414/NP300691
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- Publication type:
- Article
Editorial: Horizons of autism spectrum disorder and attention deficit hyperactivity disorder in clinical practice.
- Published in:
- Frontiers in Psychiatry, 2023, v. 14, p. 1, doi. 10.3389/fpsyt.2023.1168785
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- 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
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- 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
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- 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
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- Publication type:
- Article
Applications of cerebrospinal fluid circulating tumor DNA in the diagnosis of gliomas.
- Published in:
- Japanese Journal of Clinical Oncology, 2020, v. 50, n. 3, p. 325, doi. 10.1093/jjco/hyz156
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- Publication type:
- Article
Poly(methacrylate citric acid) as a Dual Functional Carrier for Tumor Therapy.
- Published in:
- Pharmaceutics, 2022, v. 14, n. 9, p. N.PAG, doi. 10.3390/pharmaceutics14091765
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- Publication type:
- Article
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
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
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- Publication type:
- Article
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
- Published in:
- Journal of Child Neurology, 2017, v. 32, n. 4, p. 379, doi. 10.1177/0883073816683083
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- 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
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- 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
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- 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
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- Publication type:
- Article
Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2013, v. 32, n. 3, p. 635, doi. 10.1159/000354467
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- Publication type:
- Article
Both Cell-Autonomous and Cell Non-Autonomous Functions of GAP-43 are Required for Normal Patterning of the Cerebellum In Vivo.
- Published in:
- Cerebellum, 2008, v. 7, n. 3, p. 451, doi. 10.1007/s12311-008-0049-5
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- Publication type:
- Article
Analysis of environmental impact on mechanical properties of aramid filaments.
- Published in:
- Journal of Industrial Textiles, 2013, v. 42, n. 4, p. 489, doi. 10.1177/1528083712446383
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- Publication type:
- Article
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1683
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- Publication type:
- Article
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1624
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- Publication type:
- Article
Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1515
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- Publication type:
- Article
Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1212
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- 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
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- 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
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- 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
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- Publication type:
- Article
A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three‐generation Chinese family.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 6, p. 589, doi. 10.1002/ajmg.b.32673
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- Publication type:
- Article
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 8, p. 832, doi. 10.1002/ajmg.b.32187
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- Publication type:
- Article
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 640, doi. 10.1002/ajmg.a.61467
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- Publication type:
- Article
Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 560, doi. 10.1002/ajmg.a.38590
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- Publication type:
- Article
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3189, doi. 10.1002/ajmg.a.38473
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- Publication type:
- Article
Further defining the critical genes for the 4q21 microdeletion disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 120, doi. 10.1002/ajmg.a.37965
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- Publication type:
- Article
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1165, doi. 10.1002/ajmg.a.37595
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- Publication type:
- Article
Intelligent Diagnosis of Bogie Traction Seat Based on PCA-OVO and SVM Optimized by Modified Arithmetic Optimization Algorithm.
- Published in:
- Mathematical Problems in Engineering, 2022, p. 1, doi. 10.1155/2022/1221186
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- 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
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- 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
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- Publication type:
- Article
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.
- Published in:
- 2014
- By:
- Publication type:
- journal article
A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.
- Published in:
- 2014
- By:
- Publication type:
- journal 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
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- Publication type:
- Article
Safety of AS04‐HPV‐16/18 vaccine in Chinese women aged 26 years and older and long‐term protective effect in women vaccinated at age 18–25 years: A 10‐year follow‐up study.
- Published in:
- Asia Pacific Journal of Clinical Oncology, 2023, v. 19, n. 4, p. 458, doi. 10.1111/ajco.13833
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- Publication type:
- Article
Comparison of Clinical Subgroup aCGH Profiles through Pseudolikelihood Ratio Tests.
- Published in:
- Statistical Applications in Genetics & Molecular Biology, 2011, v. 10, n. 1, p. 1, doi. 10.2202/1544-6115.1407
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- Publication type:
- Article
Fine-Mapping of Restless Legs Locus 4 ( RLS4) Identifies a Haplotype over the SPATS2L and KCTD18 Genes.
- Published in:
- Journal of Molecular Neuroscience, 2013, v. 49, n. 3, p. 600, doi. 10.1007/s12031-012-9891-5
- By:
- Publication type:
- Article
Efficiency and safety of eltrombopag for multi-line failed Chinese patients with immune thrombocytopenia: cases with decreased megakaryocyte response well from single-center experience.
- Published in:
- Immunologic Research, 2022, v. 70, n. 1, p. 67, doi. 10.1007/s12026-021-09245-w
- 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
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
Bearing Fault Diagnosis Using a Support Vector Machine Optimized by an Improved Ant Lion Optimizer.
- Published in:
- Shock & Vibration, 2019, p. 1, doi. 10.1155/2019/9303676
- By:
- Publication type:
- Article
Lamb Wave Directional Sensing with Piezoelectric Fiber Rosette in Structure Health Monitoring.
- Published in:
- Shock & Vibration, 2019, p. 1, doi. 10.1155/2019/6189290
- 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
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
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
LIN28 Is Involved in Glioma Carcinogenesis and Predicts Outcomes of Glioblastoma Multiforme Patients.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086446
- By:
- Publication type:
- Article
Screening for Coding Variants in <i>FTO</i> and <i>SH2B1</i> Genes in Chinese Patients with Obesity.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067039
- By:
- Publication type:
- Article