Works by Hisama
Results: 72
Inhibitory Effects of Phytoncide Solution on Melanin Biosynthesis.
- Published in:
- Bioscience, Biotechnology & Biochemistry, 2010, v. 74, n. 5, p. 918, doi. 10.1271/bbb.90700
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- Publication type:
- Article
Effect of a Novel Ascorbic Derivative, Disodium Isostearyl 2-O-L-Ascorbyl Phosphate, on Normal Human Dermal Fibroblasts against Reactive Oxygen Species.
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- Bioscience, Biotechnology & Biochemistry, 2008, v. 72, n. 4, p. 1015, doi. 10.1271/bbb.70766
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- Publication type:
- Article
Antimutagenic Activity of Flavonoids from Chrysanthemum morifolium.
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- Bioscience, Biotechnology & Biochemistry, 2003, v. 67, n. 10, p. 2091, doi. 10.1271/bbb.67.2091
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- Publication type:
- Article
Oxygen Scavenging and Oxygen Barrier Poly(1,2‐butadiene) Films Containing an Iron‐Complex Catalyst.
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- Macromolecular Chemistry & Physics, 2019, v. 220, n. 19, p. N.PAG, doi. 10.1002/macp.201900294
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- Article
Congenital Intra-abdominal Bilateral Juvenile Granulosa Cell Tumors of the Testis Associated with Constitutional Loss of Material from Chromosome 4.
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- Pediatric & Developmental Pathology, 2011, v. 14, n. 3, p. 224, doi. 10.2350/09-04-0638-CR.1
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- Article
<italic>ERCC4</italic> variants identified in a cohort of patients with segmental progeroid syndromes.
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- Human Mutation, 2018, v. 39, n. 2, p. 255, doi. 10.1002/humu.23367
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- Article
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
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- Human Mutation, 2017, v. 38, n. 1, p. 7, doi. 10.1002/humu.23128
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- Article
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
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- Human Mutation, 2015, v. 36, n. 11, p. 1070, doi. 10.1002/humu.22833
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- Article
Rare loss of function variants in candidate genes and risk of colorectal cancer.
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- Human Genetics, 2018, v. 137, n. 10, p. 795, doi. 10.1007/s00439-018-1938-4
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- Article
Listening to Listening: A Response to Nina Sun Eidsheim's The Race of Sound.
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- Kalfou, 2022, v. 9, n. 2, p. 280
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- Article
Effect of Water Storage on the Flexural Properties of Three Glass Fiber-Reinforced Composites.
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- International Journal of Prosthodontics, 2005, v. 18, n. 1, p. 28
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- Publication type:
- Article
Water Sorption and Dimensional Stability of Three Glass Fiber--Reinforced Composites.
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- International Journal of Prosthodontics, 2004, v. 17, n. 2, p. 195
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- Publication type:
- Article
Probability of Failure of Highly Filled Indirect Resin-Veneered Implant-Supported Restorations: An In Vitro Study.
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- International Journal of Prosthodontics, 2002, v. 15, n. 2, p. 179
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- Publication type:
- Article
Chromosomal translocation resolves a diagnostic odyssey for familial Ruvalcaba syndrome.
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- American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63847
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- Article
Diversity, inclusion and equity in medical genetics: The time is now.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2817, doi. 10.1002/ajmg.a.61899
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- Publication type:
- Article
Permeation and Metabolism of a Novel Ascorbic Acid Derivative, Disodium Isostearyl 2-O-L-Ascorbyl Phosphate, in Human Living Skin Equivalent Models.
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- Skin Pharmacology & Physiology, 2008, v. 21, n. 4, p. 235, doi. 10.1159/000139128
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- Article
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
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- Human Genetics, 2010, v. 128, n. 1, p. 103, doi. 10.1007/s00439-010-0832-5
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- Publication type:
- Article
Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases.
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- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00366-9
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- Article
Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases.
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- 2023
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- Case Study
Adults with lysosomal storage diseases in the undiagnosed diseases network.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2013
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- Article
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1148, doi. 10.1002/mgg3.495
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- Article
Human GABA<sub>B</sub> receptor 1 gene: Eight novel sequence variants.
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- Human Mutation, 2001, v. 17, n. 4, p. 349, doi. 10.1002/humu.34
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- Article
Molecular dynamics of liquid–electrode interface by integrating Coulomb interaction into universal neural network potential.
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- Journal of Computational Chemistry, 2024, v. 45, n. 32, p. 2805, doi. 10.1002/jcc.27487
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- Article
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.
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- BMC Genomics, 2014, v. 15, n. 1, p. 22, doi. 10.1186/1471-2164-15-1127
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- Article
Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.
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- GeroScience, 2024, v. 46, n. 2, p. 2771, doi. 10.1007/s11357-023-00907-1
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- Publication type:
- Article
SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome—the Myhre syndrome.
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- GeroScience, 2021, v. 43, n. 3, p. 1481, doi. 10.1007/s11357-020-00318-6
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- Article
Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome.
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- 2018
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- Publication type:
- Editorial
CNTNAP1 mutations in an adult with Charcot Marie Tooth disease.
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- 2019
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- Publication type:
- journal article
Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice.
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- 2016
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- Publication type:
- journal article
Copy number variation plays an important role in clinical epilepsy.
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- Annals of Neurology, 2014, v. 75, n. 6, p. 943, doi. 10.1002/ana.24178
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- Publication type:
- Article
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
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- Annals of Neurology, 2014, v. 75, n. 4, p. 542, doi. 10.1002/ana.24119
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- Publication type:
- Article
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
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- Neurogenetics, 2007, v. 8, n. 2, p. 131, doi. 10.1007/s10048-006-0071-z
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- Article
Stimulation of growth ofPorphyromonas gingivalisby cell extracts fromTannerella forsythia.
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- Journal of Periodontal Research, 2005, v. 40, n. 2, p. 105, doi. 10.1111/j.1600-0765.2005.00774.x
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- Publication type:
- Article
Clinical utility gene card for: Werner Syndrome - Update 2014.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.171
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- Article
Clinical utility gene card for: Werner syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.265
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- Article
Letter from the Editor.
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- Women & Music, 2016, v. 20, p. 1
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- Article
Letter from the Editor.
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- Women & Music, 2014, v. 18, p. vii, doi. 10.1353/wam.2014.0007
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- Publication type:
- Article
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.
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- Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0698-7
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- Article
Getting to Count.
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- Music Theory Spectrum, 2021, v. 43, n. 2, p. 349, doi. 10.1093/mts/mtaa033
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- Article
Understanding Charles Seeger, Pioneer in American Musicology (Book).
- Published in:
- 2002
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- Publication type:
- Book Review
Letter from the Editor.
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- 2008
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- Publication type:
- Editorial
Letter from the Editor.
- Published in:
- Journal of the Society for American Music, 2007, v. 1, n. 1, p. vii, doi. 10.1017/S1752196307070058
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- Publication type:
- Article
Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome.
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- Journal of Genetic Counseling, 2016, v. 25, n. 3, p. 515, doi. 10.1007/s10897-015-9902-0
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- Publication type:
- Article
Dysfunction of the MDM2/p53 axis is linked to premature aging.
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- 2017
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- Publication type:
- journal article
Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.
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- 2014
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- Publication type:
- journal article
Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome.
- Published in:
- Gerontology, 2014, v. 60, n. 3, p. 239, doi. 10.1159/000356030
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- Publication type:
- Article
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.
- Published in:
- Molecular Syndromology, 2010, v. 1, n. 3, p. 127, doi. 10.1159/000320166
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- Publication type:
- Article
Towards an international theory of nursing.
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- Nursing & Health Sciences, 1999, v. 1, n. 2, p. 77, doi. 10.1046/j.1442-2018.1999.00011.x
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- Publication type:
- Article
Value of a genetics clinic evaluation in identifying women at risk for hereditary breast‐ovarian cancer syndrome.
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- Journal of Genetic Counseling, 2021, v. 30, n. 6, p. 1591, doi. 10.1002/jgc4.1425
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- Article
Diversifying Music Theory: From Theory to Practice.
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- Theory & Practice, 2021, v. 46, p. v
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- Publication type:
- Article