Found: 27
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The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-15151-4
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- Publication type:
- Article
Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Genotype–Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. 2358, doi. 10.1210/clinem/dgae098
- By:
- Publication type:
- Article
Japanese siblings with cartilage‐hair hypoplasia exhibiting different severity.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Usefulness of insulin detemir in Japanese children with type 1 diabetes.
- Published in:
- Pediatrics International, 2012, v. 54, n. 6, p. 773, doi. 10.1111/j.1442-200X.2012.03687.x
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- Publication type:
- Article
Patient Report Multiple sclerosis with onset of cerebellar ataxia in an 18-month-old girl.
- Published in:
- Pediatrics International, 2004, v. 46, n. 2, p. 181, doi. 10.1046/j.1442-200x.2004.01853.x
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- Publication type:
- Article
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.657820
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- Publication type:
- Article
Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young.
- Published in:
- Journal of Diabetes Investigation, 2019, v. 10, n. 6, p. 1586, doi. 10.1111/jdi.13046
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- Publication type:
- Article
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 6, p. 691, doi. 10.1515/jpem-2019-0433
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- Publication type:
- Article
Status and trends in the use of insulin analogs, insulin delivery systems and their association with glycemic control: comparison of the two consecutive recent cohorts of Japanese children and adolescents with type 1 diabetes mellitus.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 1, p. 1, doi. 10.1515/jpem-2018-0329
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- Publication type:
- Article
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1111, doi. 10.1515/jpem-2017-0035
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- Publication type:
- Article
Semiflexibility of collagens in solution.
- Published in:
- Biopolymers, 1982, v. 21, n. 4, p. 715, doi. 10.1002/bip.360210402
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- Publication type:
- Article
Endothelin receptor antagonist attenuates inflammatory response and prolongs the survival time in a neonatal sepsis model.
- Published in:
- Intensive Care Medicine, 2010, v. 36, n. 12, p. 2132, doi. 10.1007/s00134-010-2040-0
- By:
- Publication type:
- Article
Cellular Toxicity of Cadmium Ions and Their Detoxification by Heavy Metal-Specific Plant Peptides, Phytochelatins, Expressed in Mammalian Cells1.
- Published in:
- Journal of Biochemistry, 2002, v. 131, n. 2, p. 233, doi. 10.1093/oxfordjournals.jbchem.a003093
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- Publication type:
- Article
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7.
- Published in:
- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0503-6
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- Publication type:
- Article
Molecular and clinical features of K<sub>ATP</sub>-channel neonatal diabetes mellitus in Japan.
- Published in:
- Pediatric Diabetes, 2017, v. 18, n. 7, p. 532, doi. 10.1111/pedi.12447
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- Publication type:
- Article
Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan.
- Published in:
- Endocrine Journal, 2018, v. 65, n. 6, p. 593, doi. 10.1507/endocrj.ej18-0008
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- Publication type:
- Article
Edaravone, a Hydroxyl Radical Scavenger, Ameliorates the Severity of Pulmonary Hypertension in a Porcine Model of Neonatal Sepsis.
- Published in:
- Tohoku Journal of Experimental Medicine, 2011, v. 223, n. 4, p. 235, doi. 10.1620/tjem.223.235
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- Publication type:
- Article
Severity of Virilization of External Genitalia in Japanese Patients with Salt-wasting 21-hydroxylase Deficiency.
- Published in:
- Tohoku Journal of Experimental Medicine, 2008, v. 215, n. 4, p. 341, doi. 10.1620/tjem.215.341
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- Publication type:
- Article
An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding.
- Published in:
- Clinical Pediatric Endocrinology, 2023, v. 32, n. 2, p. 114, doi. 10.1297/cpe.2022-0075
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- Publication type:
- Article
Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 1, p. 44, doi. 10.1297/cpe.2021-0029
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- Publication type:
- Article
Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision).
- Published in:
- Clinical Pediatric Endocrinology, 2015, v. 24, n. 3, p. 107
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- Publication type:
- Article
Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision).
- Published in:
- Clinical Pediatric Endocrinology, 2015, v. 24, n. 3, p. 77
- By:
- Publication type:
- Article
Elevated Aldosterone in Amniotic Fluid and Maternal Blood Has Diagnostic Potential in Pregnancies Complicated with a Fetus of Bartter Syndrome.
- Published in:
- Fetal Diagnosis & Therapy, 2005, v. 20, n. 6, p. 481, doi. 10.1159/000088035
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- Publication type:
- Article
Elevation of serum creatine kinase in response to medical treatment of Graves’ disease in children.
- Published in:
- Acta Paediatrica, 2006, v. 95, n. 2, p. 243, doi. 10.1080/08035250500341444
- By:
- Publication type:
- Article
Functional ovarian cysts in a neonate with classical 21-hydroxylase deficiency: case report and review of the literature.
- Published in:
- 2013
- By:
- Publication type:
- Abstract