Found: 27
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Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Familial dysalbuminemic hyperthyroxinemia in a 12‐year‐old girl.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Partial monosomy of 10p and duplication of another chromosome in two patients.
- Published in:
- Pediatrics International, 2017, v. 59, n. 1, p. 99, doi. 10.1111/ped.13181
- By:
- Publication type:
- Article
Mineral status of premature infants in early life and linear growth at age 3.
- Published in:
- Pediatrics International, 2015, v. 57, n. 5, p. 864, doi. 10.1111/ped.12657
- By:
- Publication type:
- Article
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 4, p. 379, doi. 10.1007/s10038-006-0360-2
- By:
- Publication type:
- Article
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131157
- By:
- Publication type:
- Article
Haplotype Analysis Reveals Founder Effects of Thyroglobulin Gene Mutations C1058R and C1977S in Japan.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 8, p. 3100, doi. 10.1210/jc.2005-2702
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- Publication type:
- Article
A New Compound Heterozygous Mutation in the 11bHydroxysteroid Dehydrogenase Type 2 Gene in a Case of Apparent Mineralocorticoid Excess.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 12, p. 4054, doi. 10.1210/jcem.82.12.4455
- By:
- Publication type:
- Article
Cephalhematoma and petechial rashes associated with acute parvovirus B19 infection: a case report.
- Published in:
- BMC Infectious Diseases, 2013, v. 13, n. 1, p. 465, doi. 10.1186/1471-2334-13-465
- By:
- Publication type:
- Article
Cephalhematoma and petechial rashes associated with acute parvovirus B19 infection: a case report.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 4, p. 557, doi. 10.1515/jpem-2019-0466
- By:
- Publication type:
- Article
Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 2, p. 68, doi. 10.1111/cga.12402
- By:
- Publication type:
- Article
Novel Compound Heterozygous AIRE mutations in a Japanese Patient with APECED.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2004, v. 17, n. 6, p. 917, doi. 10.1515/jpem.2004.17.6.917
- By:
- Publication type:
- Article
Validity of a self-administered diet history questionnaire for estimating vitamin D intakes of Japanese pregnant women.
- Published in:
- Maternal & Child Nutrition, 2015, v. 11, n. 4, p. 525, doi. 10.1111/mcn.12063
- By:
- Publication type:
- Article
Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23.
- Published in:
- Journal of Bone & Mineral Metabolism, 2021, v. 39, n. 6, p. 1066, doi. 10.1007/s00774-021-01250-1
- By:
- Publication type:
- Article
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 10, p. 1845, doi. 10.1007/s00467-016-3462-x
- By:
- Publication type:
- Article
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.
- Published in:
- Pediatric Nephrology, 2006, v. 21, n. 2, p. 190, doi. 10.1007/s00467-005-2091-6
- By:
- Publication type:
- Article
The Boy:Girl Ratio of Children Diagnosed with Growth Hormone Deficiency-Induced Short Stature Is Associated with the Boy:Girl Ratio of Children Visiting Short Stature Clinics.
- Published in:
- Hormone Research in Paediatrics, 2021, v. 94, n. 5/6, p. 211, doi. 10.1159/000518995
- By:
- Publication type:
- Article
Successful Intermittent Intravenous Calcium Treatment via the Peripheral Route in a Patient with Hereditary Vitamin D-Resistant Rickets and Alopecia.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 1, p. 67, doi. 10.1159/000367711
- By:
- Publication type:
- Article
Juvenile pustular psoriasis associated with steroid withdrawal syndrome due to topical corticosteroid.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Painful Thyroiditis and Subsequent Atrophic Hypothyroidism After Cord Blood Transfusion.
- Published in:
- Thyroid, 2011, v. 21, n. 10, p. 1157, doi. 10.1089/thy.2010.0352
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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
- By:
- Publication type:
- Article
Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children.
- Published in:
- Endocrine Journal, 2012, v. 59, n. 11, p. 1007, doi. 10.1507/endocrj.ej12-0143
- By:
- Publication type:
- Article
LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.
- Published in:
- Nephrology Dialysis Transplantation, 2014, v. 29, n. 1, p. 81, doi. 10.1093/ndt/gft359
- By:
- Publication type:
- Article
Growth hormone deficiency: a possible complication of glucose transporter 1 deficiency?
- Published in:
- Acta Paediatrica, 2012, v. 101, n. 6, p. e259, doi. 10.1111/j.1651-2227.2012.02606.x
- By:
- Publication type:
- Article
A recurrent de novo FAM111A mutation causes kenny-caffey syndrome type 2.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 4, p. 992, doi. 10.1002/jbmr.2091
- By:
- Publication type:
- Article