Works matching IS 0334018X AND DT 2016 AND VI 29 AND IP 5
Results: 18
A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 603, doi. 10.1515/jpem-2015-0425
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- Article
De novo mutation of PHEX in a type 1 diabetes patient.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 621, doi. 10.1515/jpem-2015-0399
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- Article
Familial Turner syndrome: the importance of information.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 617, doi. 10.1515/jpem-2015-0277
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A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 611, doi. 10.1515/jpem-2015-0375
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- Article
A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 607, doi. 10.1515/jpem-2015-0045
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- Article
Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 627, doi. 10.1515/jpem-2015-0253
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- Article
Pituitary gigantism: a retrospective case series.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 597, doi. 10.1515/jpem-2015-0269
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- Article
Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 591, doi. 10.1515/jpem-2015-0323
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- Article
A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 585, doi. 10.1515/jpem-2015-0249
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- Article
Urate crystals deposition in the feet of overweight juveniles and those with symptomatic hyperuricemia: a dual-energy CT study.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 579, doi. 10.1515/jpem-2015-0290
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- Article
Prevalence and clinical features of polycystic ovarian syndrome in adolescents with previous childhood growth hormone deficiency.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 571, doi. 10.1515/jpem-2015-0423
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- Article
Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 567, doi. 10.1515/jpem-2015-0383
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- Article
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 561, doi. 10.1515/jpem-2015-0337
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- Article
Classification and clinical characterization of metabolically "healthy" obese children and adolescents.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 553, doi. 10.1515/jpem-2015-0395
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- Article
Waist-to-height ratio as a marker of low-grade inflammation in obese children and adolescents.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 543, doi. 10.1515/jpem-2014-0526
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- Article
Safety and metabolic impact of Ramadan fasting in children and adolescents with type 1 diabetes.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 533, doi. 10.1515/jpem-2015-0263
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- Article
Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 523, doi. 10.1515/jpem-2015-0341
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- Article
Resistance to thyroid hormone α, revelation of basic study to clinical consequences.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 5, p. 511, doi. 10.1515/jpem-2015-0286
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- Article