Found: 17
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Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type la.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 3, p. 184, doi. 10.1111/j.1399-0004.1998.tb02674.x
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- Publication type:
- Article
One amino acid makes a difference-Characterization of a new TPMT allele and the influence of SAM on TPMT stability.
- Published in:
- Scientific Reports, 2017, p. 46428, doi. 10.1038/srep46428
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- Publication type:
- Article
The Use of Aldosterone-Renin Ratio as a Diagnostic Test for Primary Hyperaldosteronism and Its Test Characteristics under Different Conditions of Blood Sampling.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 1, p. 72, doi. 10.1210/jc.2004-1149
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- Publication type:
- Article
Increased Bone Mineral Density in Patients with Chronic Hypoparathyroidism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3155, doi. 10.1210/jc.2002-021388
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- Publication type:
- Article
Effects of Lithium Therapy on Bone Mineral Metabolism: A Two-Year Prospective Longitudinal Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 11, p. 3857, doi. 10.1210/jc.83.11.3857
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- Publication type:
- Article
Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility.
- Published in:
- Journal of the Endocrine Society, 2020, v. 4, n. 2, p. N.PAG, doi. 10.1210/jendso/bvz016
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- Publication type:
- Article
Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 8, p. 915, doi. 10.1515/jpem-2019-0028
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- Publication type:
- Article
A 12-year-old Chinese girl with Cushing syndrome and virilization due to adrenocortical carcinoma.
- Published in:
- 2011
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- Publication type:
- Case Study
Homocysteine level in schizophrenia patients.
- Published in:
- Australian & New Zealand Journal of Psychiatry, 2009, v. 43, n. 8, p. 760, doi. 10.1080/00048670903001935
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- Publication type:
- Article
Diagnosis of 5α-Reductase 2 Deficiency: Is Measurement of Dihydrotestosterone Essential?
- Published in:
- Clinical Chemistry, 2013, v. 59, n. 5, p. 798, doi. 10.1373/clinchem.2012.196501
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- Publication type:
- Article
Increased Bone Mineral Density in Patients with Chronic Hypoparathyroidism.
- Published in:
- IEEE Transactions on Software Engineering, 2003, v. 29, n. 7, p. 3155, doi. 10.1210/jc.2002-021388
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- Publication type:
- Article
Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Long-term outcome of kidney transplantation in a patient with coexisting lipoprotein glomerulopathy and fibrillary glomerulonephritis.
- Published in:
- Clinical Kidney Journal, 2014, v. 7, n. 4, p. 396, doi. 10.1093/ckj/sfu058
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- Publication type:
- Article
Dried blood spot measurement: application in tacrolimus monitoring using limited sampling strategy and abbreviated AUC estimation.
- Published in:
- Transplant International, 2008, v. 21, n. 2, p. 140, doi. 10.1111/j.1432-2277.2007.00584.x
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- Publication type:
- Article
Can daclizumab reduce acute rejection and improve long-term renal function in tacrolimus-based primary renal transplant recipients?
- Published in:
- Nephrology, 2008, v. 13, n. 3, p. 251, doi. 10.1111/j.1440-1797.2007.00911.x
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- Publication type:
- Article
Independent association of serum vitamin D with anti‐Mullerian hormone levels in women with polycystic ovary syndrome.
- Published in:
- Clinical Endocrinology, 2018, v. 89, n. 5, p. 634, doi. 10.1111/cen.13816
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- Publication type:
- Article
Is withdrawal of somatostatin analogue therapy in patients with acromegaly associated with an increased risk of acute biliary problems?
- Published in:
- 2008
- By:
- Publication type:
- Letter