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Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14902-7
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- Publication type:
- Article
The Detection of Immunity against WT1 and SMAD4 P130L of EpCAM + Cancer Cells in Malignant Pleural Effusion.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12177, doi. 10.3390/ijms232012177
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- Publication type:
- Article
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11175, doi. 10.3390/ijms231911175
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- Publication type:
- Article
Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 13060, doi. 10.3390/ijms222313060
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- Publication type:
- Article
Spontaneous and Engineered Large Animal Models of Neurofibromatosis Type 1.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1954, doi. 10.3390/ijms22041954
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- Publication type:
- Article
Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3530, doi. 10.3390/ijms21103530
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- Publication type:
- Article
Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report.
- Published in:
- 2021
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- Publication type:
- journal article
Development of a simple and highly sensitive mutation screening system by enzyme mismatch cleavage with optimized conditions for standard laboratories.
- Published in:
- Electrophoresis, 2008, v. 29, n. 7, p. 1473, doi. 10.1002/elps.200700729
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- Publication type:
- Article
Expansion of activated eosinophils in infants with severe atopic dermatitis.
- Published in:
- Pediatrics International, 2005, v. 47, n. 1, p. 32, doi. 10.1111/j.1442-200x.2004.02004.x
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- Publication type:
- Article
Microsatellite analysis of childhood leukemia: Correlation of 9p and 12p chromosome abnormalities with expression of related genes.
- Published in:
- Pediatrics International, 1999, v. 41, n. 4, p. 346, doi. 10.1046/j.1442-200X.1999.01088.x
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- Publication type:
- Article
Diffuse brain damage caused by acute twin-twin transfusion during late pregnancy.
- Published in:
- Pediatrics International, 1998, v. 40, n. 4, p. 370, doi. 10.1111/j.1442-200X.1998.tb01951.x
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- Publication type:
- Article
Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 4, p. 216, doi. 10.1038/jhg.2013.3
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- Publication type:
- Article
Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 10, p. 687, doi. 10.1038/jhg.2012.97
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- Publication type:
- Article
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63628
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- Publication type:
- Article
TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma.
- Published in:
- Child's Nervous System, 2022, v. 38, n. 1, p. 77, doi. 10.1007/s00381-021-05399-y
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- Publication type:
- Article
Anterior Prefrontal Hemodynamic Connectivity in Conscious 3- to 7-Year-Old Children with Typical Development and Autism Spectrum Disorder.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056087
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- Publication type:
- Article
Clinical and Diagnostic Utility of Genomic Profiling for Digestive Cancers: Real-World Evidence from Japan.
- Published in:
- Cancers, 2024, v. 16, n. 8, p. 1504, doi. 10.3390/cancers16081504
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- Publication type:
- Article
Clinical Trial on the Safety and Tolerability of Personalized Cancer Vaccines Using Human Platelet Lysate-Induced Antigen-Presenting Cells.
- Published in:
- Cancers, 2023, v. 15, n. 14, p. 3627, doi. 10.3390/cancers15143627
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- Publication type:
- Article
Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration.
- Published in:
- Congenital Anomalies, 2019, v. 59, n. 1, p. 22, doi. 10.1111/cga.12280
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- Publication type:
- Article
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.
- Published in:
- Congenital Anomalies, 2017, v. 57, n. 3, p. 86, doi. 10.1111/cga.12196
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- Publication type:
- Article
Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.
- Published in:
- Congenital Anomalies, 2017, v. 57, n. 1, p. 32, doi. 10.1111/cga.12175
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- Publication type:
- Article
An optimized cocktail of small molecule inhibitors promotes the maturation of dendritic cells in GM-CSF mouse bone marrow culture.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1264609
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- Publication type:
- Article
Atypical brain lateralisation in the auditory cortex and language performance in 3- to 7-year-old children with high-functioning autism spectrum disorder: a child-customised magnetoencephalography (MEG) study.
- Published in:
- Molecular Autism, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2040-2392-4-38
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- Publication type:
- Article
Schimmelpenning‐Feuerstein‐Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review.
- Published in:
- Journal of Dermatology, 2023, v. 50, n. 9, p. 1213, doi. 10.1111/1346-8138.16822
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- Publication type:
- Article
Individualized tacrolimus therapy: Insights from CYP3A5 polymorphisms and intestinal metabolism.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Squamous cell carcinoma–like ungual fibroma as early diagnostic indicators of tuberous sclerosis complex in an elderly patient.
- Published in:
- Journal of Cutaneous Immunology & Allergy, 2020, v. 3, n. 5, p. 111, doi. 10.1002/cia2.12128
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- Publication type:
- Article
A novel PHEX mutation associated with vitamin D-resistant rickets.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0040-3
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- Publication type:
- Article
Clinical Practice Guidelines for tuberous sclerosis complex‐associated renal angiomyolipoma by the Japanese Urological Association: Summary of the update.
- Published in:
- International Journal of Urology, 2023, v. 30, n. 10, p. 808, doi. 10.1111/iju.15213
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- Publication type:
- Article
Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression.
- Published in:
- Biology (2079-7737), 2021, v. 10, n. 4, p. 256, doi. 10.3390/biology10040256
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- Publication type:
- Article
An infant with recurrent convulsive seizures of 3 weeks' duration: Answers.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 10, p. 1953, doi. 10.1007/s00467-013-2628-z
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- Publication type:
- Article
An infant with recurrent convulsive seizures of 3 weeks duration: Questions.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 10, p. 1951, doi. 10.1007/s00467-013-2615-4
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- Publication type:
- Article
Effective Prophylaxis Against Various Adverse Events from Mitochondrial Cytochrome b Gene Mutation Triggered by Transplant-Related Chemotherapy and Immunosuppressants.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Intermittent X-linked thrombocytopenia with a novel WAS gene mutation.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 4, p. 746, doi. 10.1002/pbc.24787
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- Publication type:
- Article
Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions.
- Published in:
- Journal of Dermatology, 2015, v. 42, n. 11, p. 1087, doi. 10.1111/1346-8138.12949
- By:
- Publication type:
- Article
Cyanotic Breath-Holding Spell: A Life-Threatening Complication after Radical Resection of a Cervicomedullary Ganglioglioma.
- Published in:
- Pediatric Neurosurgery, 2005, v. 41, n. 2, p. 93, doi. 10.1159/000085163
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- Publication type:
- Article
Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00286-9
- By:
- Publication type:
- Article
Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00257-6
- By:
- Publication type:
- Article
Oxytocin for Male subjects with autism spectrum Disorder and comorbid intellectual Disabilities: a randomized Pilot study.
- Published in:
- Frontiers in Psychiatry, 2016, p. 1, doi. 10.3389/fpsyt.2016.00002
- By:
- Publication type:
- Article
A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes.
- Published in:
- Endocrine Journal, 2021, v. 68, n. 9, p. 1135, doi. 10.1507/endocrj.ej20-0809
- By:
- Publication type:
- Article
A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Membranous Nephropathy-Like Apolipoprotein E Deposition Disease with Apolipoprotein E Toyonaka and Homozygous Apolipoprotein E2/2 without Dyslipidemia, with Characteristic Electron-Dense Deposits.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Genomics of Tumor Origin and Characteristics for Adenocarcinoma and Malignant Pleural Mesothelioma: A Case Report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1256064
- By:
- Publication type:
- Article
SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 2079, doi. 10.3390/genes14112079
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- Publication type:
- Article
Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.
- Published in:
- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0212370
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- Publication type:
- Article
Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early‐Onset Osteoporosis.
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 6, p. 1125, doi. 10.1002/jbmr.4550
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- Publication type:
- Article
Comparison of RNA-Sequencing Methods for Degraded RNA.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 6143, doi. 10.3390/ijms25116143
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- Publication type:
- Article
Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern.
- Published in:
- Cytogenetic & Genome Research, 2018, v. 154, n. 3, p. 137, doi. 10.1159/000488572
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- Publication type:
- Article
Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model.
- Published in:
- 2018
- By:
- Publication type:
- Case Study