Found: 16
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Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 3, p. 153, doi. 10.1159/000433468
- By:
- Publication type:
- Article
Acute Hyperglycemia and Spatial Working Memory in Adolescents With Type 1 Diabetes.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
- Published in:
- Journal of International Medical Research, 2018, v. 46, n. 4, p. 1339, doi. 10.1177/0300060517734123
- By:
- Publication type:
- Article
GNRHR-related central hypogonadism with spontaneous recovery – case report.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01377-5
- By:
- Publication type:
- Article
MD-Logic overnight type 1 diabetes control in home settings: A multicentre, multinational, single blind randomized trial.
- Published in:
- Diabetes, Obesity & Metabolism, 2017, v. 19, n. 4, p. 553, doi. 10.1111/dom.12852
- By:
- Publication type:
- Article
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.581134
- By:
- Publication type:
- Article
Two Cases With an Early Presented Proopiomelanocortin Deficiency—A Long-Term Follow-Up and Systematic Literature Review.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.689387
- By:
- Publication type:
- Article
An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 717, doi. 10.3390/genes13050717
- By:
- Publication type:
- Article
A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 657, doi. 10.3390/genes13040657
- By:
- Publication type:
- Article
Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1248231
- By:
- Publication type:
- Article
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1134133
- By:
- Publication type:
- Article
An ancient founder mutation in PROKR2 impairs human reproduction.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4314, doi. 10.1093/hmg/dds264
- By:
- Publication type:
- Article
Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.
- Published in:
- Endocrine (1355008X), 2019, v. 65, n. 2, p. 379, doi. 10.1007/s12020-019-01949-2
- By:
- Publication type:
- Article
Decreased prevalence of hypercholesterolemia and stabilisation of obesity trends in 5-year-old children: possible effects of changed public health policies.
- Published in:
- European Journal of Endocrinology, 2014, v. 170, n. 2, p. 293, doi. 10.1530/EJE-13-0566
- By:
- Publication type:
- Article