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A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Advanced Glycation End Product Accumulation Is Associated With Low Skeletal Muscle Mass, Weak Muscle Strength, and Reduced Bone Density: The Nagahama Study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Association between serum α1-antitrypsin levels and all-cause mortality in the general population: the Nagahama study.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-96833-3
- By:
- Publication type:
- Article
Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 4, p. 860, doi. 10.1002/jgc4.1556
- By:
- Publication type:
- Article
Japanese women's reasons for accompaniment status to hereditary breast and ovarian cancer‐focused genetic counseling.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 2, p. 497, doi. 10.1002/jgc4.1519
- By:
- Publication type:
- Article
Association of Education and Depressive Symptoms with Tooth Loss.
- Published in:
- Journal of Dental Research, 2021, v. 100, n. 4, p. 361, doi. 10.1177/0022034520969129
- By:
- Publication type:
- Article
A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanese patient.
- Published in:
- European Journal of Endocrinology, 2000, v. 143, n. 4, p. 471, doi. 10.1530/eje.0.1430471
- By:
- Publication type:
- Article
Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).
- Published in:
- European Journal of Endocrinology, 1999, v. 141, n. 5, p. 475, doi. 10.1530/eje.0.1410475
- By:
- Publication type:
- Article
Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A -Associated Retinitis Pigmentosa in Japanese Patients.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 7817, doi. 10.3390/ijms21217817
- By:
- Publication type:
- Article
National survey of prevalence and prognosis of thanatophoric dysplasia in Japan.
- Published in:
- Pediatrics International, 2019, v. 61, n. 8, p. 748, doi. 10.1111/ped.13927
- By:
- Publication type:
- Article
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 613, doi. 10.1038/jhg.2015.82
- By:
- Publication type:
- Article
Descriptive epidemiology of high frequency component based on heart rate variability from 10-second ECG data and daily physical activity among community adult residents: the Nagahama Study.
- Published in:
- BioScience Trends, 2020, v. 14, n. 4, p. 241, doi. 10.5582/bst.2020.03146
- By:
- Publication type:
- Article
Lynch syndrome screening in patients with young-onset extra-colorectal Lynch syndrome-associated cancers.
- Published in:
- International Journal of Clinical Oncology, 2024, v. 29, n. 11, p. 1696, doi. 10.1007/s10147-024-02609-w
- By:
- Publication type:
- Article
Prevalence of pathogenic germline variants in the circulating tumor DNA testing.
- Published in:
- International Journal of Clinical Oncology, 2022, v. 27, n. 10, p. 1554, doi. 10.1007/s10147-022-02220-x
- By:
- Publication type:
- Article
Germline sequencing for presumed germline pathogenic variants via tumor-only comprehensive genomic profiling.
- Published in:
- International Journal of Clinical Oncology, 2022, v. 27, n. 8, p. 1256, doi. 10.1007/s10147-022-02176-y
- By:
- Publication type:
- Article
Knee Pain and Low Back Pain Additively Disturb Sleep in the General Population: A Cross-Sectional Analysis of the Nagahama Study.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140058
- By:
- Publication type:
- Article
Mastication and Risk for Diabetes in a Japanese Population: A Cross-Sectional Study.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0064113
- By:
- Publication type:
- Article
Increased Risk of Temporomandibular Joint Closed Lock: A Case-Control Study of ANKH Polymorphisms.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0025503
- By:
- Publication type:
- Article
Extending the Clinical Heterogeneity of Iodide Transport Defect (ITD): A Novel Mutation R124H of the Sodium/Iodide Symporter Gene and Review of Genotype-Phenotype Correlations in ITD.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 4, p. 1199, doi. 10.1210/jc.2005-1832
- By:
- Publication type:
- Article
A Novel Peculiar Mutation in the Sodium/Iodide Symporter Gene in Spanish Siblings with Iodide Transport Defect.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 8, p. 3830, doi. 10.1210/jcem.87.8.8767
- By:
- Publication type:
- Article
A Novel Mutation in the Sodium/Iodide Symporter Gene in the Largest Family with Iodide Transport Defect.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 9, p. 3248, doi. 10.1210/jcem.84.9.5971
- By:
- Publication type:
- Article
High Prevalence of T354P Sodium/Iodide Symporter Gene Mutation in Japanese Patients with Iodide Transport Defect Who Have Heterogeneous Clinical Pictures.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 11, p. 4123, doi. 10.1210/jc.83.11.4123
- By:
- Publication type:
- Article
A Homozygous Missense Mutation of the Sodium/Iodide Symporter Gene Causing Iodide Transport Defect.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 12, p. 3966, doi. 10.1210/jcem.82.12.4425
- By:
- Publication type:
- Article
Gender Differences in Smoking Initiation and Cessation Associated with the Intergenerational Transfer of Smoking across Three Generations: The Nagahama Study.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 3, p. 1511, doi. 10.3390/ijerph19031511
- By:
- Publication type:
- Article
Frequent nocturnal urination in older men is associated with arterial stiffness: The Nagahama study.
- Published in:
- Hypertension Research, 2019, v. 42, n. 12, p. 1996, doi. 10.1038/s41440-019-0309-4
- By:
- Publication type:
- Article
Association of the spot urine sodium-to-potassium ratio with blood pressure is independent of urinary Na and K levels: The Nagahama study.
- Published in:
- Hypertension Research, 2019, v. 42, n. 10, p. 1624, doi. 10.1038/s41440-019-0276-9
- By:
- Publication type:
- Article
Association between socioeconomic factors and urinary sodium-to-potassium ratio: the Nagahama Study.
- Published in:
- Hypertension Research, 2018, v. 41, n. 11, p. 973, doi. 10.1038/s41440-018-0101-x
- By:
- Publication type:
- Article
Clinical significance of an elevated ankle-brachial index differs depending on the amount of appendicular muscle mass: the J-SHIPP and Nagahama studies.
- Published in:
- Hypertension Research, 2018, v. 41, n. 5, p. 354, doi. 10.1038/s41440-018-0020-x
- By:
- Publication type:
- Article
Seasonal variation in nocturnal home blood pressure fall: the Nagahama study.
- Published in:
- Hypertension Research, 2018, v. 41, n. 3, p. 198, doi. 10.1038/s41440-017-0003-3
- By:
- Publication type:
- Article
Lifestyle habits associated with nocturnal urination frequency: The Nagahama study.
- Published in:
- Neurourology & Urodynamics, 2019, v. 38, n. 8, p. 2359, doi. 10.1002/nau.24156
- By:
- Publication type:
- Article
Germline mutations of thePTCHgene in Japanese patients with nevoid basal cell carcinoma syndrome.
- Published in:
- Archives of Dermatological Research, 2005, v. 296, n. 7, p. 303, doi. 10.1007/s00403-004-0520-1
- By:
- Publication type:
- Article
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.
- Published in:
- Cancers, 2021, v. 13, n. 16, p. 4014, doi. 10.3390/cancers13164014
- By:
- Publication type:
- Article
High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients.
- Published in:
- European Journal of Endocrinology, 2013, v. 168, n. 5, p. 683, doi. 10.1530/EJE-12-1106
- By:
- Publication type:
- Article
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan.
- Published in:
- Congenital Anomalies, 2024, v. 64, n. 3, p. 116, doi. 10.1111/cga.12562
- By:
- Publication type:
- Article
Analysis of triptan use during pregnancy in Japan: A case series.
- Published in:
- Congenital Anomalies, 2022, v. 62, n. 2, p. 78, doi. 10.1111/cga.12456
- By:
- Publication type:
- Article
Current status and legal/ethical problems in the research use of the tissues of aborted human fetuses in Japan.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 6, p. 166, doi. 10.1111/cga.12381
- By:
- Publication type:
- Article
Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case.
- Published in:
- Surgery Today, 2014, v. 44, n. 11, p. 2195, doi. 10.1007/s00595-013-0826-8
- By:
- Publication type:
- Article
Small Degree of Lumbar Lordosis as an Overlooked Determinant for Orthostatic Increases in Blood Pressure in the Elderly: The Nagahama Study.
- Published in:
- American Journal of Hypertension, 2019, v. 32, n. 1, p. 61, doi. 10.1093/ajh/hpy137
- By:
- Publication type:
- Article
Day-to-Day Home Blood Pressure Variability and Orthostatic Hypotension: The Nagahama Study.
- Published in:
- American Journal of Hypertension, 2018, v. 31, n. 12, p. 1278, doi. 10.1093/ajh/hpy131
- By:
- Publication type:
- Article
Prognostic Significance of Spot Urine Na/K for Longitudinal Changes in Blood Pressure and Renal Function: The Nagahama Study.
- Published in:
- American Journal of Hypertension, 2017, v. 30, n. 9, p. 899, doi. 10.1093/ajh/hpx075
- By:
- Publication type:
- Article
Association of Longer QT Interval With Arterial Waveform and Lower Pulse Pressure Amplification: The Nagahama Study.
- Published in:
- American Journal of Hypertension, 2013, v. 26, n. 8, p. 973
- By:
- Publication type:
- Article
Effects of Smoking and Shared Epitope on the Production of Anti-Citrullinated Peptide Antibody in a Japanese Adult Population.
- Published in:
- Arthritis Care & Research, 2014, v. 66, n. 12, p. 1818, doi. 10.1002/acr.22385
- By:
- Publication type:
- Article
The Current State of Genetic Counseling Before and After Amniocentesis for Fetal Karyotyping in Japan: A Survey of Obstetric Hospital Clients of a Prenatal Testing Laboratory.
- Published in:
- Journal of Genetic Counseling, 2013, v. 22, n. 6, p. 795, doi. 10.1007/s10897-013-9632-0
- By:
- Publication type:
- Article
Two Germline Missense Mutations at Codons 804 and 806 of the RET Proto-oncogene in the Same Allele in a Patient with Multiple Endocrine Neoplasia Type 2B without Codon 918 Mutation.
- Published in:
- Cancer Science, 1999, v. 90, n. 1, p. 1, doi. 10.1111/j.1349-7006.1999.tb00658.x
- By:
- Publication type:
- Article
Reproductive decision-making following the diagnosis of an inherited metabolic disorder via newborn screening in Japan: a qualitative study.
- Published in:
- Frontiers in Reproductive Health, 2023, v. 5, p. 1, doi. 10.3389/frph.2023.1098464
- By:
- Publication type:
- Article
Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels.
- Published in:
- Nature Communications, 2015, v. 6, n. 7, p. 7754, doi. 10.1038/ncomms8754
- By:
- Publication type:
- Article
A Novel Six-nucleotide Insertion in Exon 4 of the MEN1 Gene, 878insCTGCAG, in Three Patients with Familial Insulinoma and Primary Hyperparathyroidism.
- Published in:
- Japanese Journal of Clinical Oncology, 2002, v. 32, n. 9, p. 368, doi. 10.1093/jjco/hyf079
- By:
- Publication type:
- Article
A Novel Germline Mutation of the MEN1 Gene, L259del, in a Patient with Sporadic Multiple Endocrine Neoplasia Type 1 (MEN1).
- Published in:
- Japanese Journal of Clinical Oncology, 2001, v. 31, n. 3, p. 125, doi. 10.1093/jjco/hye021
- By:
- Publication type:
- Article
THE PROCESS OF WHISTLEBLOWING IN A JAPANESE PSYCHIATRIC HOSPITAL.
- Published in:
- Nursing Ethics, 2008, v. 15, n. 5, p. 631, doi. 10.1177/0969733008092871
- By:
- Publication type:
- Article