Found: 25
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Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration.
- Published in:
- Endocrine Journal, 2024, v. 71, n. 7, p. 687, doi. 10.1507/endocrj.EJ23-0680
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- Publication type:
- Article
Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.
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- Yonago Acta Medica, 2024, v. 67, n. 2, p. 93, doi. 10.33160/yam.2024.05.010
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- Publication type:
- Article
Tissue characteristics of residual lesion in patients with acute coronary syndrome caused by plaque rupture versus plaque erosion: a single-center, retrospective, observational study.
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- Nagoya Journal of Medical Science, 2024, v. 86, n. 2, p. 189, doi. 10.18999/nagjms.86.2.189
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- Publication type:
- Article
Utility of new FDG-PET/CT guidelines for diagnosing cardiac sarcoidosis in patients with implanted cardiac pacemakers for atrioventricular block.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-58475-z
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- Publication type:
- Article
A case with assessment of cardiac–coronary interactions with transthoracic echocardiography before and after transcatheter aortic valve replacement.
- Published in:
- European Heart Journal Case Reports, 2024, v. 8, n. 2, p. 1, doi. 10.1093/ehjcr/ytae037
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- Article
Switching to burosumab from conventional therapy in siblings with relatively well-controlled X-linked hypophosphatemia.
- Published in:
- Clinical Pediatric Endocrinology, 2024, v. 33, n. 1, p. 27, doi. 10.1297/cpe.2023-0043
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- Article
Association between coronary flow and aortic stenosis during transcatheter aortic valve implantation.
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- ESC Heart Failure, 2023, v. 10, n. 3, p. 2031, doi. 10.1002/ehf2.14316
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- Article
Surgical revascularization for severe spasm in the left main coronary artery.
- Published in:
- 2023
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- Publication type:
- Case Study
Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations.
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 2, p. 59, doi. 10.1297/cpe.2021-0064
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- Article
Independent predictors of discordance between the resting full-cycle ratio and fractional flow reserve.
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- Heart & Vessels, 2021, v. 36, n. 6, p. 790, doi. 10.1007/s00380-020-01763-1
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- Article
Genetic causes of growth hormone insensitivity beyond GHR.
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- Reviews in Endocrine & Metabolic Disorders, 2021, v. 22, n. 1, p. 43, doi. 10.1007/s11154-020-09603-3
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- Article
Cord Blood from SGA Preterm Infants Exhibits Increased GLUT4 mRNA Expression.
- Published in:
- Yonago Acta Medica, 2021, v. 64, n. 1, p. 57, doi. 10.33160/yam.2021.02.009
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- Publication type:
- Article
Clinical feasibility of resting full-cycle ratio as a unique non-hyperemic index of invasive functional lesion assessment.
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- Heart & Vessels, 2020, v. 35, n. 11, p. 1518, doi. 10.1007/s00380-020-01638-5
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- Publication type:
- Article
Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.
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- Human Molecular Genetics, 2020, v. 29, n. 15, p. 2625, doi. 10.1093/hmg/ddaa103
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- Publication type:
- Article
Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood.
- Published in:
- European Journal of Endocrinology, 2020, v. 182, n. 3, p. 363
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- Publication type:
- Article
Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation.
- Published in:
- Endocrinology, 2019, v. 160, n. 6, p. 1363, doi. 10.1210/en.2018-00755
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- Publication type:
- Article
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in <bold>CYP11A1</bold>.
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- Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 205, doi. 10.1159/000487638
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- Publication type:
- Article
A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.
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- Endocrine Journal, 2017, v. 64, n. 1, p. 83, doi. 10.1507/endocrj.ej16-0280
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- Publication type:
- Article
Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.
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- Clinical Endocrinology, 2015, v. 83, n. 6, p. 834, doi. 10.1111/cen.12791
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- Publication type:
- Article
Influence of plaque characteristics on fractional flow reserve for coronary lesions with intermediate to obstructive stenosis: insights from integrated-backscatter intravascular ultrasound analysis.
- Published in:
- 2015
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- Publication type:
- journal article
Feasibility and safety of intracoronary nicorandil infusion as a novel hyperemic agent for fractional flow reserve measurements.
- Published in:
- Heart & Vessels, 2015, v. 30, n. 4, p. 477, doi. 10.1007/s00380-014-0508-5
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- Publication type:
- Article
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
- Published in:
- Endocrine Journal, 2015, v. 62, n. 1, p. 101, doi. 10.1507/endocrj.ej14-0437
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- Publication type:
- Article
Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor ( IGF1 R) mutation.
- Published in:
- Clinical Endocrinology, 2014, v. 81, n. 2, p. 312, doi. 10.1111/cen.12317
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- Publication type:
- Article
Leprechaunism (Donohue syndrome): A case bearing novel compound heterozygous mutations in the insulin receptor gene.
- Published in:
- Endocrine Journal, 2013, v. 60, n. 1, p. 107, doi. 10.1507/endocrj.ej12-0289
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- Publication type:
- Article
Castleman disease in a child with short stature.
- Published in:
- Pediatrics International, 2012, v. 54, n. 5, p. 720, doi. 10.1111/j.1442-200X.2012.03589.x
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- Publication type:
- Article