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Hypophosphatemia in juvenile patients with systemic lupus erythematosus.
- Published in:
- Pediatrics International, 2003, v. 45, n. 1, p. 23, doi. 10.1046/j.1442-200X.2003.01665.x
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- Publication type:
- Article
Normal pituitary function in a Japanese patient with Barth syndrome.
- Published in:
- 2002
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- Publication type:
- Case Study
Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency.
- Published in:
- 2021
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- Publication type:
- Case Study
Hypercalcemia due to all-trans retinoic acid therapy for acute promyelocytic leukemia: A case report of effective treatment with bisphosphonate.
- Published in:
- Pediatrics International, 2001, v. 43, n. 6, p. 688, doi. 10.1046/j.1442-200X.2001.01457.x
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- Publication type:
- Article
Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
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- 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
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2851, doi. 10.1002/ajmg.a.37231
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- Publication type:
- Article
Mutations in PIGL in a patient with Mabry syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 777, doi. 10.1002/ajmg.a.36987
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- Publication type:
- Article
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 234, doi. 10.1002/ajmg.a.35678
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- Publication type:
- Article
Abnormal Regulation of Renal 25-Hydroxyvitamin D-1α-Hydroxylase Activity in X-Linked Hypophosphatemia: A Translational or Post-Translational Defect.
- Published in:
- Journal of Bone & Mineral Research, 2003, v. 18, n. 3, p. 434, doi. 10.1359/jbmr.2003.18.3.434
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- Publication type:
- Article
Coordinated Maturational Regulation of PHEX and Renal Phosphate Transport Inhibitory Activity: Evidence for the Pathophysiological Role of PHEX in X-Linked Hypophosphatemia.
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- Journal of Bone & Mineral Research, 1999, v. 14, n. 12, p. 2027, doi. 10.1359/jbmr.1999.14.12.2027
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- Publication type:
- Article
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.
- Published in:
- 2006
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- Publication type:
- journal article
The risk of secondary sex ratio imbalance and increased monozygotic twinning after blastocyst transfer: data from the Japan Environment and Children's Study.
- Published in:
- Reproductive Biology & Endocrinology, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12958-019-0471-1
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- Publication type:
- Article
Secondhand smoke exposure is associated with the risk of hypertensive disorders of pregnancy: the Japan Environment and Children's Study.
- Published in:
- Hypertension Research, 2023, v. 46, n. 4, p. 834, doi. 10.1038/s41440-022-01144-3
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- Publication type:
- Article
Higher prevalence of hypertensive disorders of pregnancy in women who smoke: the Japan environment and children's study.
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- Hypertension Research, 2019, v. 42, n. 4, p. 558, doi. 10.1038/s41440-019-0206-x
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- Publication type:
- Article
Association between alcohol consumption during pregnancy and hypertensive disorders of pregnancy in Japan: the Japan Environment and Children's Study.
- Published in:
- Hypertension Research, 2019, v. 42, n. 1, p. 85, doi. 10.1038/s41440-018-0124-3
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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
A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.
- Published in:
- Human Genetics, 2001, v. 109, n. 5, p. 559, doi. 10.1007/s00439-001-0612-3
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- Publication type:
- Article
A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.
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- Sexual Development, 2019, v. 13, n. 2, p. 60, doi. 10.1159/000496777
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- Publication type:
- Article
Pregnant Women’s Awareness of Social Capital in the Great East Japan Earthquake-Affected Areas of Miyagi Prefecture: The Japan Environment and Children’s Study.
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- Disaster Medicine & Public Health Preparedness, 2017, v. 11, n. 3, p. 355, doi. 10.1017/dmp.2016.150
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- Publication type:
- Article
Incidence of Domestic Violence Against Pregnant Females After the Great East Japan Earthquake in Miyagi Prefecture: The Japan Environment and Children’s Study.
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- Disaster Medicine & Public Health Preparedness, 2017, v. 11, n. 2, p. 216, doi. 10.1017/dmp.2016.109
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- Publication type:
- Article
Heterozygous defects in PAX6 gene and congenital hypopituitarism.
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- European Journal of Endocrinology, 2015, v. 172, n. 1, p. 37, doi. 10.1530/EJE-14-0255
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- Publication type:
- Article
Preconception folic acid supplementation use and the occurrence of neural tube defects in Japan: A nationwide birth cohort study of the Japan Environment and Children's Study.
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- Congenital Anomalies, 2019, v. 59, n. 4, p. 110, doi. 10.1111/cga.12293
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- Publication type:
- Article
Selective serotonin reuptake inhibitors and risk of major congenital anomalies for pregnancies in Japan: A nationwide birth cohort study of the Japan Environment and Children's Study.
- Published in:
- Congenital Anomalies, 2017, v. 57, n. 3, p. 72, doi. 10.1111/cga.12202
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- Publication type:
- Article
Association of achondroplasia with Down syndrome: Difficulty in prenatal diagnosis by sonographic and 3- D helical computed tomographic analyses.
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- Congenital Anomalies, 2015, v. 55, n. 2, p. 116, doi. 10.1111/cga.12097
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- Publication type:
- Article
Subacute Thyroiditis in Children: Patient Report and Review of the Literature.
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- Journal of Pediatric Endocrinology & Metabolism, 2003, v. 16, n. 6, p. 897, doi. 10.1515/jpem.2003.16.6.897
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- Publication type:
- Article
Interannual Changes in the Prevalence of Intimate Partner Violence Against Pregnant Women in Miyagi Prefecture After the Great East Japan Earthquake: The Japan Environment and Children's Study.
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- Journal of Interpersonal Violence, 2021, v. 36, n. 21/22, p. 10013, doi. 10.1177/0886260519881517
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- Publication type:
- Article
Phenotype variability in nephrogenic diabetes insipidus due to p.D85N mutation in the arginine vasopressin receptor 2 gene.
- Published in:
- Nephrology, 2013, v. 18, n. 5, p. 390, doi. 10.1111/nep.12048
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- Publication type:
- Article
Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23.
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- Journal of Bone & Mineral Metabolism, 2021, v. 39, n. 6, p. 1066, doi. 10.1007/s00774-021-01250-1
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- Publication type:
- Article
Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta.
- Published in:
- 2018
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- Publication type:
- journal article
Effects of RXR Agonists on Cell Proliferation/Apoptosis and ACTH Secretion/Pomc Expression.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0141960
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- Publication type:
- Article
A case of 49,XXXYY followed-up from infancy to adulthood with review of literature.
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- Endocrine Journal, 2024, v. 71, n. 7, p. 721, doi. 10.1507/endocrj.EJ24-0015
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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
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
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
PTHrP-independent hypercalcemia with increased proinflammatory cytokines and bone resorption in two children with CD19-negative precursor B acute lymphoblastic leukemia.
- Published in:
- Pediatric Blood & Cancer, 2007, v. 49, n. 7, p. 990, doi. 10.1002/pbc.20782
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- Publication type:
- Article
Fermented Food Consumption and Psychological Distress in Pregnant Women: A Nationwide Birth Cohort Study of the Japan Environment and Children's Study.
- Published in:
- Tohoku Journal of Experimental Medicine, 2016, v. 240, n. 4, p. 309, doi. 10.1620/tjem.240.309
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- Publication type:
- Article
Reduced Exposure to Mercury in Patients Receiving Enteral Nutrition.
- Published in:
- Tohoku Journal of Experimental Medicine, 2006, v. 210, n. 3, p. 209, doi. 10.1620/tjem.210.209
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- Publication type:
- Article
A case of long-term survival of SADDAN treated with growth hormone for marked short stature.
- Published in:
- Clinical Pediatric Endocrinology, 2024, v. 33, n. 3, p. 144, doi. 10.1297/cpe.2023-0068
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- Publication type:
- Article
Clinical Practice Guidelines for Hypophosphatasia.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 1, p. 9, doi. 10.1297/cpe.29.9
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- Publication type:
- Article
A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in INSR.
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- Clinical Pediatric Endocrinology, 2018, v. 27, n. 1, p. 53, doi. 10.1297/cpe.27.53
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- Publication type:
- Article
Childbirth and fertility preservation in childhood and adolescent cancer patients: a second national survey of Japanese pediatric endocrinologists.
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- Clinical Pediatric Endocrinology, 2017, v. 26, n. 2, p. 81, doi. 10.1297/cpe.26.81
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- Publication type:
- Article
Gonadal function, fertility, and reproductive medicine in childhood and adolescent cancer patients: a national survey of Japanese pediatric endocrinologists.
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- Clinical Pediatric Endocrinology, 2016, v. 25, n. 2, p. 45, doi. 10.1297/cpe.25.45
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- Publication type:
- Article
Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia.
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- Clinical Pediatric Endocrinology, 2013, v. 22, n. 4, p. 77, doi. 10.1297/cpe.22.77
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- Publication type:
- Article
Case Report: Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation.
- Published in:
- Clinical Pediatric Endocrinology, 2012, v. 21, n. 3, p. 45, doi. 10.1297/cpe.21.45
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- Publication type:
- Article
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. 1142, doi. 10.1002/humu.21328
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- Publication type:
- Article
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 284, doi. 10.1002/humu.21187
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- Publication type:
- Article
Drug Use before and during Pregnancy in Japan: The Japan Environment and Children's Study.
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- Pharmacy, 2017, v. 5, n. 2, p. 21, doi. 10.3390/pharmacy5020021
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- Publication type:
- Article
Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.
- Published in:
- Cytogenetic & Genome Research, 2017, v. 151, n. 1, p. 1, doi. 10.1159/000458469
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- Publication type:
- Article
Methionine Enkephalin Suppresses Osteocyte Apoptosis Induced by Compressive Force through Regulation of Nuclear Translocation of NFATc1.
- Published in:
- JBMR Plus, 2020, v. 4, n. 7, p. 1, doi. 10.1002/jbm4.10369
- By:
- Publication type:
- Article
Methionine Enkephalin Suppresses Osteocyte Apoptosis Induced by Compressive Force through Regulation of Nuclear Translocation of NFATc1.
- Published in:
- JBMR Plus, 2020, v. 4, n. 7, p. 1, doi. 10.1002/jbm4.10369
- By:
- Publication type:
- Article