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An Unusual Pediatric Case of an Insidious Thermal Airway Injury Without Initial Signs of Facial or Intraoral Scalding.
- Published in:
- Journal of Burn Care & Research, 2024, v. 45, n. 3, p. 805, doi. 10.1093/jbcr/irae021
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- Publication type:
- Article
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. 750, doi. 10.1210/clinem/dgad577
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- Publication type:
- Article
Temporal Trend of the SARS-CoV-2 Omicron Variant and RSV in the Nasal Cavity and Accuracy of the Newly Developed Antigen-Detecting Rapid Diagnostic Test.
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- Diagnostics (2075-4418), 2024, v. 14, n. 1, p. 119, doi. 10.3390/diagnostics14010119
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- Publication type:
- Article
Severe Acute Respiratory Syndrome Coronavirus 2 Omicron Variant Kinetics in Natural Infection: A Case Study.
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- Turkish Journal of Internal Medicine, 2024, v. 6, n. 1, p. 69, doi. 10.46310/tjim.1352394
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- Publication type:
- Article
A case of papilledema in Camurati-Engelmann disease treated effectively with prednisolone.
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- Clinical Pediatric Endocrinology, 2023, v. 32, n. 3, p. 174, doi. 10.1297/cpe.2023-0009
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- Publication type:
- Article
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).
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- Clinical Pediatric Endocrinology, 2023, v. 32, n. 1, p. 26, doi. 10.1297/cpe.2022-0063
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- Publication type:
- Article
A case of osteopathia striata with cranial sclerosis with facial nerve palsies.
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- 2023
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- Publication type:
- Case Study
The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3341, doi. 10.1210/clinem/dgac521
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- Publication type:
- Article
Acute Perimyocarditis in an Adolescent Japanese Male after a Booster Dose of the BNT162b2 COVID-19 Vaccine.
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- 2022
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- Publication type:
- Case Study
Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ.
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- Clinical Pediatric Endocrinology, 2022, v. 31, n. 4, p. 234, doi. 10.1297/cpe.2021-0065
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- Publication type:
- Article
Genetic causes of central precocious puberty.
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- Clinical Pediatric Endocrinology, 2022, v. 31, n. 3, p. 101, doi. 10.1297/cpe.2022-0021
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- Publication type:
- Article
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision).
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- Clinical Pediatric Endocrinology, 2022, v. 31, n. 3, p. 116, doi. 10.1297/cpe.2022-0009
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- Publication type:
- Article
A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism.
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- Clinical Pediatric Endocrinology, 2022, v. 31, n. 2, p. 98, doi. 10.1297/cpe.2021-0071
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- Publication type:
- Article
Newborn Screening in Japan—2021.
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- 2022
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- Publication type:
- Editorial
Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists.
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- Endocrine Journal, 2022, v. 69, n. 1, p. 75, doi. 10.1507/endocrj.ej21-0292
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- Publication type:
- Article
The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients.
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- Clinical Endocrinology, 2021, v. 94, n. 2, p. 229, doi. 10.1111/cen.14347
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- Article
Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.
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- 2020
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- Publication type:
- journal article
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan.
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- Endocrine Journal, 2020, v. 67, n. 8, p. 853, doi. 10.1507/endocrj.ej20-0011
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- Publication type:
- Article
Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.
- Published in:
- 2020
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- Publication type:
- journal article
Recent advances in research on isolated congenital central hypothyroidism.
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- Clinical Pediatric Endocrinology, 2019, v. 28, n. 3, p. 69, doi. 10.1297/cpe.28.69
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- Publication type:
- Article
Health problems of adolescent and adult patients with 21-hydroxylase deficiency.
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- Clinical Pediatric Endocrinology, 2018, v. 27, n. 4, p. 203, doi. 10.1297/cpe.27.203
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- Publication type:
- Article
Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations.
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- 2018
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- Publication type:
- Case Study
Two siblings with congenital central hypothyroidism caused by a novel mutation in the IGSF1 gene.
- Published in:
- 2018
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- Publication type:
- Case Study
Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 166, doi. 10.1159/000486393
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- Publication type:
- Article
A Japanese patient with congenital central hypothyroidism caused by a novel <italic>IGSF1</italic> mutation.
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- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 3, p. 355, doi. 10.1515/jpem-2017-0144
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- Publication type:
- Article
A newborn with combined pituitary hormone deficiency developing shock and sludge.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 12, p. 1333, doi. 10.1515/jpem-2017-0203
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- Publication type:
- Article
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.
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- Pediatric Diabetes, 2017, v. 18, n. 8, p. 934, doi. 10.1111/pedi.12513
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- Publication type:
- Article
Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan.
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- Clinical Pediatric Endocrinology, 2017, v. 26, n. 4, p. 207, doi. 10.1297/cpe.26.207
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- Publication type:
- Article
Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial.
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- Clinical Endocrinology, 2017, v. 87, n. 1, p. 10, doi. 10.1111/cen.13343
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- Publication type:
- Article
Clinical features and molecular basis of pseudohypoaldosteronism type 1.
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- Clinical Pediatric Endocrinology, 2017, v. 26, n. 3, p. 109, doi. 10.1297/cpe.26.109
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- Publication type:
- Article
Sulfonylurea treatment in an infant with transient neonatal diabetes mellitus caused by an adenosine triphosphate binding cassette subfamily C member 8 gene mutation.
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- Clinical Pediatric Endocrinology, 2017, v. 26, n. 3, p. 165, doi. 10.1297/cpe.26.165
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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
Cover Image, Volume 38, Issue 1.
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- Human Mutation, 2017, v. 38, n. 1, p. i, doi. 10.1002/humu.23151
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- Publication type:
- Article
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.
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- Human Mutation, 2017, v. 38, n. 1, p. 39, doi. 10.1002/humu.23116
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- Publication type:
- Article
A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.
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- Thyroid, 2016, v. 26, n. 12, p. 1701, doi. 10.1089/thy.2016.0005
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- Publication type:
- Article
Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in Japan.
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- BMC Health Services Research, 2016, v. 16, p. 1, doi. 10.1186/s12913-016-1854-z
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- Publication type:
- Article
Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline.
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- Endocrine Journal, 2016, v. 63, n. 9, p. 765, doi. 10.1507/endocrj.ej16-0242
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- Publication type:
- Article
A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1.
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- 2016
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- Publication type:
- Case Study
Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.
- Published in:
- 2016
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- Publication type:
- journal article
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 7, p. 807, doi. 10.1515/jpem-2015-0400
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- Publication type:
- Article
Neonatal mass screening for 21-hydroxylase deficiency.
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- Clinical Pediatric Endocrinology, 2016, v. 25, n. 1, p. 1, doi. 10.1297/cpe.25.1
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- Publication type:
- 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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- Publication type:
- Article
Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1578, doi. 10.1002/ajmg.a.37073
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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
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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
Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2.
- Published in:
- 2015
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- Publication type:
- Case Study
Low Frequencies of Autoimmunity-Associated PTPN22 Polymorphisms in MODY Patients, Including Those Transiently Expressing Islet Cell Autoantibodies.
- Published in:
- International Archives of Allergy & Immunology, 2015, v. 166, n. 3, p. 189, doi. 10.1159/000380853
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- Publication type:
- Article
Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.
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- Endocrine Journal, 2015, v. 62, n. 3, p. 277, doi. 10.1507/endocrj.ej14-0377
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- Publication type:
- Article
Corrigendum to “Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene”.
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- Case Reports in Pediatrics, 2015, v. 2015, p. 1, doi. 10.1155/2015/853523
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- Publication type:
- Article
Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis.
- Published in:
- 2015
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- Publication type:
- Case Study