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Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63612
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- Publication type:
- Article
Incidence and Risk Factors for Adrenal Crisis in Pediatric-onset Adrenal Insufficiency: A Prospective Study.
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- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 8, p. e1602, doi. 10.1210/clinem/dgad753
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- Publication type:
- Article
RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63562
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- Publication type:
- Article
Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.
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- Endocrine Journal, 2024, v. 71, n. 5, p. 471, doi. 10.1507/endocrj.EJ23-0391
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- Publication type:
- Article
A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00265-0
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- Publication type:
- Article
A case of adolescent trichorhinophalangeal syndrome undergoing pelvic osteotomy for bilateral acetabular dysplasia.
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- Journal of Orthopaedic Science, 2023, v. 28, n. 6, p. 1501, doi. 10.1016/j.jos.2021.07.021
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- Publication type:
- Article
A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns.
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- Children, 2023, v. 10, n. 8, p. 1341, doi. 10.3390/children10081341
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- Publication type:
- Article
Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.
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- Patient Preference & Adherence, 2023, v. 17, p. 1885, doi. 10.2147/PPA.S417142
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- Publication type:
- Article
Klinefelter syndrome with penoscrotal transposition and diphallia: A case study.
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- Congenital Anomalies, 2023, v. 63, n. 4, p. 125, doi. 10.1111/cga.12517
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- Publication type:
- Article
PORCN‐related microphthalmia with limb anomalies: Case report and literature review.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 636, doi. 10.1002/ajmg.a.63048
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- Publication type:
- Article
Knowns and unknowns about congenital hypothyroidism: 2022 update.
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- Clinical Pediatric Endocrinology, 2023, v. 32, n. 1, p. 11, doi. 10.1297/cpe.2022-0016
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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
GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.
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- Human Molecular Genetics, 2022, v. 31, n. 23, p. 3967, doi. 10.1093/hmg/ddac093
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- Publication type:
- Article
Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis.
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- Congenital Anomalies, 2022, v. 62, n. 6, p. 254, doi. 10.1111/cga.12486
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- Publication type:
- Article
Infantile-Onset Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Central Diabetes Insipidus: A Case Report.
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- Children, 2022, v. 9, n. 5, p. 716, doi. 10.3390/children9050716
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- Publication type:
- Article
A 7-year-old boy with central diabetes insipidus presenting with thickened pituitary stalk and anti-rabphilin-3A antibody positivity.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 5, p. 687, doi. 10.1515/jpem-2021-0674
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- Publication type:
- Article
A Japanese family with a heterozygous novel mutation in the Indian hedgehog gene exhibiting a broad spectrum of clinical features and radiological findings.
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- Congenital Anomalies, 2022, v. 62, n. 1, p. 47, doi. 10.1111/cga.12445
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- Publication type:
- Article
Peripheral precocious puberty in a girl with an intracranial hCG-producing tumor: case report and literature review.
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- Endocrine Journal, 2021, v. 68, n. 12, p. 1463, doi. 10.1507/endocrj.ej21-0117
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- Publication type:
- Article
Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement.
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- Congenital Anomalies, 2021, v. 61, n. 5, p. 202, doi. 10.1111/cga.12434
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- Publication type:
- Article
Re-Evaluation of the Prevalence of Permanent Congenital Hypothyroidism in Niigata, Japan: A Retrospective Study.
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- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020027
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- Publication type:
- Article
Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Regulation of Serum Sodium Levels during Chemotherapy Using Selective Arginine Vasopressin V2-Receptor Antagonist Tolvaptan in a Four-Year-Old Girl with a Suprasellar Germ Cell Tumor.
- Published in:
- Children, 2021, v. 8, n. 4, p. 1, doi. 10.3390/children8040293
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- Publication type:
- Article
A Japanese Family with DICER1 Syndrome Found in Childhood-Onset Multinodular Goitre.
- Published in:
- Hormone Research in Paediatrics, 2020, v. 93, n. 7/8, p. 477, doi. 10.1159/000511140
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- Publication type:
- Article
Retrospective study of the renal function using estimated glomerular filtration rate and congenital anomalies of the kidney‐urinary tract in pediatric Turner syndrome.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 6, p. 175, doi. 10.1111/cga.12384
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- Publication type:
- Article
Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour.
- Published in:
- 2020
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- Publication type:
- journal article
Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.
- Published in:
- 2020
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- Publication type:
- journal article
Letter to the Editor: Testosterone priming increased growth hormone peak levels in the stimulation test and suppressed gonadotropin secretion in three Japanese adolescent boys.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 4, p. 201, doi. 10.1297/cpe.29.201
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- Publication type:
- 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
Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-67715-x
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- Publication type:
- Article
Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 3, p. 105, doi. 10.1297/cpe.29.105
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- Publication type:
- Article
A nationwide questionnaire survey targeting Japanese pediatric endocrinologists regarding transitional care in childhood, adolescent, and young adult cancer survivors.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 2, p. 55, doi. 10.1297/cpe.29.55
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- Publication type:
- Article
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
- Published in:
- 2019
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- Publication type:
- journal article
Levothyroxine Dosage as Predictor of Permanent and Transient Congenital Hypothyroidism: A Multicenter Retrospective Study in Japan.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 1, p. 45, doi. 10.1159/000502418
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- Publication type:
- Article
Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997–2017.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 6, p. 585, doi. 10.1515/jpem-2018-0444
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- Publication type:
- Article
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
- Published in:
- Human Genetics, 2019, v. 138, n. 1, p. 21, doi. 10.1007/s00439-018-1951-7
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- Publication type:
- Article
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β‐subunit of the insulin receptor (INSR) gene.
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- 2019
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- Case Study
Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia.
- Published in:
- Child's Nervous System, 2018, v. 34, n. 11, p. 2275, doi. 10.1007/s00381-018-3880-0
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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
Frontispiz: Entropy‐Driven Diastereoselectivity Improvement in the Paternò–Büchi Reaction of 1‐Naphthyl Aryl Ethenes with a Chiral Cyanobenzoate through Remote Alkylation.
- Published in:
- 2018
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- Publication type:
- Cover Art
Entropy‐Driven Diastereoselectivity Improvement in the Paternò–Büchi Reaction of 1‐Naphthyl Aryl Ethenes with a Chiral Cyanobenzoate through Remote Alkylation.
- Published in:
- Angewandte Chemie, 2018, v. 130, n. 18, p. 4974, doi. 10.1002/ange.201801330
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- Publication type:
- Article
Entropy-Driven Diastereoselectivity Improvement in the Paternò–Büchi Reaction of 1-Naphthyl Aryl Ethenes with a Chiral Cyanobenzoate through Remote Alkylation.
- Published in:
- Angewandte Chemie International Edition, 2018, v. 57, n. 18, p. 4880, doi. 10.1002/anie.201801330
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- Publication type:
- Article
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
Nonsense mutations in <italic>FZD2</italic> cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 739, doi. 10.1002/ajmg.a.38623
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- Publication type:
- Article
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 2, p. 137, doi. 10.1530/EJE-16-1049
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- Publication type:
- Article
Chiroptical properties of dithia[3.3]cyclophanes composed of anthracene and pyridine/pyridinium moieties: A combined experimental and theoretical study.
- Published in:
- Chirality, 2017, v. 29, n. 11, p. 677, doi. 10.1002/chir.22740
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- Publication type:
- Article
PTEN mutation in a Japanese boy with autonomously functioning thyroid nodule.
- Published in:
- Pediatrics International, 2017, v. 59, n. 11, p. 1223, doi. 10.1111/ped.13427
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- Publication type:
- Article
Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2847, doi. 10.1002/ajmg.a.38419
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- Publication type:
- Article
Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan.
- Published in:
- Clinical Pediatric Endocrinology, 2017, v. 26, n. 4, p. 207, doi. 10.1297/cpe.26.207
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- Publication type:
- Article
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
- Published in:
- Endocrine Journal, 2017, v. 64, n. 10, p. 947, doi. 10.1507/endocrj.ej17-0150
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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.
- Published in:
- Clinical Endocrinology, 2017, v. 87, n. 1, p. 10, doi. 10.1111/cen.13343
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- Publication type:
- Article