Found: 31
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Renal cell carcinoma producing α-fetoprotein (AFP) with a unique lectins-affinity profile.
- Published in:
- Journal of Surgical Oncology, 1994, v. 55, n. 4, p. 215, doi. 10.1002/jso.2930550404
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- Publication type:
- Article
Response to Letter to the Editor From Janot et al: "Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia".
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. e1812, doi. 10.1210/clinem/dgae230
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- Publication type:
- Article
Incidence and Risk Factors for Adrenal Crisis in Pediatric-onset Adrenal Insufficiency: A Prospective Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 8, p. e1602, doi. 10.1210/clinem/dgad753
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- Publication type:
- Article
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. 641, doi. 10.1210/clinem/dgad627
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- Publication type:
- Article
Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1146
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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.
- Published in:
- Patient Preference & Adherence, 2023, v. 17, p. 1885, doi. 10.2147/PPA.S417142
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- Publication type:
- Article
Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.
- Published in:
- 2014
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- Publication type:
- journal article
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature.
- Published in:
- 2013
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- Publication type:
- Journal Article
Criteria for radiologic diagnosis of hypochondroplasia in neonates.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046008
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- Publication type:
- Article
A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036809
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- Publication type:
- Article
Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 7, p. 1367, doi. 10.1210/js.2019-00086
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- Publication type:
- Article
Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 8, p. 786, doi. 10.1515/jpem-2023-0120
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- Publication type:
- Article
Heterozygous defects in PAX6 gene and congenital hypopituitarism.
- Published in:
- European Journal of Endocrinology, 2015, v. 172, n. 1, p. 37, doi. 10.1530/EJE-14-0255
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- Publication type:
- Article
Impact of M‐protein detection on the response evaluations of patients undergoing treatment with the IgG‐κ monoclonal antibodies daratumumab or isatuximab, and discrepancies between immunofixation electrophoresis (IFE) systems and reagents
- Published in:
- Cancer Medicine, 2024, v. 13, n. 16, p. 1, doi. 10.1002/cam4.70128
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- Publication type:
- Article
Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome.
- Published in:
- 2021
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- Publication type:
- Letter
A neonatal‐onset succinyl‐CoA:3‐ketoacid CoA transferase (SCOT)‐deficient patient with T435N and c.658‐666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 307, doi. 10.1007/s10545-010-9168-5
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- Publication type:
- Article
Rapid Growth and Early Metastasis of Papillary Thyroid Carcinoma in an Adolescent Girl with Graves' Disease.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 3, p. 210, doi. 10.1159/000491102
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- Publication type:
- Article
Human Chorionic Gonadotropin Stimulation Test in Prepubertal Children with Micropenis Can Accurately Predict Leydig Cell Function in Pubertal or Postpubertal Adolescents.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 5, p. 305, doi. 10.1159/000439234
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- Publication type:
- Article
Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists.
- Published in:
- Endocrine Journal, 2022, v. 69, n. 1, p. 75, doi. 10.1507/endocrj.ej21-0292
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- Publication type:
- Article
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan.
- Published in:
- Endocrine Journal, 2020, v. 67, n. 8, p. 853, doi. 10.1507/endocrj.ej20-0011
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- Publication type:
- Article
A 29-year-old patient with adrenoleukodystrophy presenting with Addison's disease.
- Published in:
- Endocrine Journal, 2020, v. 67, n. 6, p. 655, doi. 10.1507/endocrj.ej19-0576
- By:
- Publication type:
- Article
Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5a-reductase type 2 deficiency.
- Published in:
- Endocrine Journal, 2019, v. 66, n. 9, p. 837, doi. 10.1507/endocrj.ej19-0111
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- Publication type:
- Article
Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision).
- Published in:
- 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 NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 3, p. 99, doi. 10.1297/cpe.29.99
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- Publication type:
- Article
MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206184
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- Publication type:
- Article
Two Tandemly Arrayed Transfer-RNA-Derived SINEs of the Medaka (Oryzias latipes).
- Published in:
- Marine Biotechnology, 2000, v. 2, n. 4, p. 399, doi. 10.1007/pl00021686
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- Publication type:
- Article
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.
- Published in:
- Clinical Endocrinology, 2014, v. 80, n. 5, p. 706, doi. 10.1111/cen.12379
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- Publication type:
- Article
Comprehensive genetic analyses of primary adrenal failure without enzymatic defects.
- Published in:
- 2013
- By:
- Publication type:
- Abstract