Found: 25
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A case of large cell calcifying Sertoli cell tumor in a child with a history of nasal myxoid tumor in infancy.
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- Pathology International, 1999, v. 49, n. 5, p. 471, doi. 10.1046/j.1440-1827.1999.00895.x
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- Article
Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation.
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- European Journal of Pediatrics, 2004, v. 163, n. 4/5, p. 202, doi. 10.1007/s00431-004-1405-1
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- Article
Abnormal steroidogenesis in three patients with Antley–Bixler syndrome: Apparent decreased activity of 17α-hydroxylase, 17,20-lyase and 21-hydroxylase.
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- Pediatrics International, 2004, v. 46, n. 5, p. 583, doi. 10.1111/j.1442-200x.2004.01960.x
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- Article
Results of Long-Term Follow-Up after Treatment of Central Precocious Puberty with Leuprorelin Acetate: Evaluation of Effectiveness of Treatment and Recovery of Gonadal Function. The TAP-144-SR Japanese Study Group on Central Precocious Puberty.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 3, p. 1371, doi. 10.1210/jc.2004-1863
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- Article
Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 1, p. 414, doi. 10.1210/jc.2004-0810
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- Article
Turner Syndrome and Xp Deletions: Clinical and Molecular Studies in 47 Patients.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 11, p. 5498, doi. 10.1210/jcem.86.11.8058
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- Article
Compound Heterozygous Mutations in the γ Subunit Gene of ENaC (1627delG and 1570-1G→A) in One Sporadic Japanese Patient with a Systemic Form of Pseudohypoaldosteronism Type 1.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 1, p. 9, doi. 10.1210/jcem.86.1.7116
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- Article
A Novel Missense Mutation of Mineralocorticoid Receptor Gene in One Japanese Family with a Renal Form of Pseudohypoaldosteronism Type 1.
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- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 12, p. 4690, doi. 10.1210/jcem.85.12.7078
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- Article
Identification of Novel Human GH-1 Gene Polymorphisms that Are Associated with Growth Hormone Secretion and Height.
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- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 3, p. 1290, doi. 10.1210/jcem.85.3.6468
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- Article
Recent status in the occurrence of leukemia in growth hormone-treated patients in Japan. GH Treatment Study Committee of the Foundation for Growth Science, Japan.
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- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 6, p. 1961, doi. 10.1210/jcem.84.6.5716
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- Article
Serum Levels of 20-Kilodalton Human Growth Hormone (GH) Are Parallel Those of 22-Kilodalton Human GH in Normal and Short Children.
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- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 1, p. 98, doi. 10.1210/jcem.84.1.5402
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- Article
Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.
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- Human Genetics, 2000, v. 107, n. 5, p. 433, doi. 10.1007/s004390000377
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- Article
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.
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- Human Genetics, 2000, v. 106, n. 3, p. 306, doi. 10.1007/s004390051042
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- Article
A Novel Mutation in the GATA3 Gene in a Family with HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Anomaly Syndrome).
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- Journal of Pediatric Endocrinology & Metabolism, 2006, v. 19, n. 1, p. 87, doi. 10.1515/jpem.2006.19.1.87
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- Article
Prophylactic cranial irradiation of acute lymphoblastic leukemia in childhood: Outcomes of late effects on pituitary function and growth in long-term survivors.
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- International Journal of Cancer, 2001, v. 96, p. 117, doi. 10.1002/ijc.10348
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- Article
Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.
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- 2000
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- Publication type:
- journal article
Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: Molecular analysis in four patients.
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- Genes, Chromosomes & Cancer, 1999, v. 25, n. 1, p. 40, doi. 10.1002/(SICI)1098-2264(199905)25:1<40::AID-GCC6>3.0.CO;2-8
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- Article
Sequence Analysis of the Thyrotropin (TSH) Receptor Gene in Congenital Primary Hypothyroidism Associated with TSH Unresponsiveness.
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- Thyroid, 1994, v. 4, n. 3, p. 255, doi. 10.1089/thy.1994.4.255
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- Article
Continuing efforts to standardize measured serum growth hormone values in Japan.
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- Endocrine Journal, 2016, v. 63, n. 10, p. 933, doi. 10.1507/endocrj.ej16-0198
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- Article
Standardized centile curves and reference intervals of serum insulin-like growth factor-I (IGF-I) levels in a normal Japanese population using the LMS method*.
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- Endocrine Journal, 2012, v. 59, n. 9, p. 771, doi. 10.1507/endocrj.ej12-0110
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- Article
Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan.
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- Clinical Pediatric Endocrinology, 2015, v. 24, n. 4, p. 167, doi. 10.1297/cpe.24.167
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- Article
Favorable Impact of Growth Hormone Treatment on Cholesterol Levels in Turner Syndrome.
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- Clinical Pediatric Endocrinology, 2012, v. 21, n. 2, p. 29, doi. 10.1297/cpe.21.29
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- Article
Adult Heights of 258 Girls with Turner Syndrome on Low Dose of Growth Hormone Therapy in Japan.
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- Clinical Pediatric Endocrinology, 2010, v. 19, n. 3, p. 63, doi. 10.1297/cpe.19.63
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- Article
Usefulness of pancreatic ultrasonography in the diagnosis of Shwachman-Bodian-Diamond syndrome.
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- 2005
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- Publication type:
- journal article
Analysis of the Steroidogenic Acute Regulatory Protein (StAR) Gene in Japanese Patients with Congenital Lipoid Adrenal Hyperplasia.
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- Human Molecular Genetics, 1997, v. 6, n. 4, p. 571, doi. 10.1093/hmg/6.4.571
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- Article