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Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency -- a case report.
- Published in:
- Pediatric Endocrinology, Diabetes & Metabolism, 2016, v. 22, n. 2, p. 71, doi. 10.18544/PEDM-22.02.0054
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- Article
Analiza alleli HLA klasy 2 i przeciwciał przeciw antygenom komórek β jako dowód na nieautoimmunologiczną patogenezę cukrzycy w zespole Wolframa.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2010, v. 16, n. 4, p. 233
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- Article
Optymalizacja programu poszukiwania cukrzyc monogenowych - wstępne wyniki działañ rekrutacyjnych projektu TEAM.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2010, v. 16, n. 2, p. 73
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- Article
Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications.
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- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0512-1
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- Article
Central Nervous System PET-CT Imaging Reveals Regional Impairments in Pediatric Patients with Wolfram Syndrome.
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- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0115605
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- Article
Genetic Factors of Diabetes.
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- Archivum Immunologiae & Therapiae Experimentalis, 2016, v. 64, p. 157, doi. 10.1007/s00005-016-0432-8
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- Article
Serum Tumor Necrosis Factor-α and Interleukin-10 Levels as Markers to Predict Outcome of Patients with Chronic Lymphocytic Leukemia in Different Risk Groups Defined by the IGHV Mutation Status.
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- Archivum Immunologiae & Therapiae Experimentalis, 2012, v. 60, n. 6, p. 477, doi. 10.1007/s00005-012-0197-7
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- Article
An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY).
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 1, p. 97, doi. 10.1515/jpem-2016-0239
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- Article
Frequency of the E23K polymorphism of the KCNJ11 gene in children born small for gestational age and its influence on auxological and metabolic parameters in the prepubertal period.
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- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 5/6, p. 457, doi. 10.1515/jpem-2012-0196
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- Article
Endothelial integrity may be regulated by a specific antigen via an IgE-mediated mechanism.
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- Advances in Hygiene & Experimental Medicine / Postepy Higieny i Medycyny Doswiadczalnej, 2017, v. 71, p. 162
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- Article
The influence of INS VNTR class III allele on auxological parameters, glucose, insulin, lipids, and adipocytokines secretion in prepubertal children born small for gestational age.
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- Polish Journal of Endocrinology / Endokrynologia Polska, 2016, v. 67, n. 6, p. 585, doi. 10.5603/EP.2016.0068
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- Article
Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene.
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- Polish Journal of Endocrinology / Endokrynologia Polska, 2015, v. 66, n. 1, p. 15, doi. 10.5603/EP.2015.0004
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- Article
Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing.
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- Endocrine (1355008X), 2021, v. 73, n. 3, p. 752, doi. 10.1007/s12020-021-02753-7
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- Article
A cross‐sectional study of patients referred for HNF1B‐MODY genetic testing due to cystic kidneys and diabetes.
- Published in:
- Pediatric Diabetes, 2020, v. 21, n. 3, p. 422, doi. 10.1111/pedi.12959
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- Article
Monogenic diabetes prevalence among Polish children—Summary of 11 years‐long nationwide genetic screening program.
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- Pediatric Diabetes, 2018, v. 19, n. 1, p. 53, doi. 10.1111/pedi.12532
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- Article
Ancestral mutations may cause a significant proportion of GCK-MODY.
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- Pediatric Diabetes, 2012, v. 13, n. 6, p. 489, doi. 10.1111/j.1399-5448.2011.00845.x
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- Article
Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology.
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- 2016
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- Publication type:
- Letter
Less but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level.
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- Acta Diabetologica, 2014, v. 51, n. 4, p. 625, doi. 10.1007/s00592-014-0567-1
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- Article
Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene.
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- Acta Diabetologica, 2011, v. 48, n. 3, p. 203, doi. 10.1007/s00592-011-0279-8
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- Publication type:
- Article
Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance.
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- Genes, 2020, v. 11, n. 11, p. 1283, doi. 10.3390/genes11111283
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- Publication type:
- Article
Retinal Thinning as a Marker of Disease Progression in Patients With Wolfram Syndrome.
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- Diabetes Care, 2015, v. 38, n. 3, p. e36, doi. 10.2337/dc14-1898
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- Publication type:
- Article
Paternally Inherited Proinsulin Mutations May Result in Earlier Onset of Monogenic Diabetes Mutation Identity Effect in Monogenic Diabetes.
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- Diabetes Care, 2011, v. 34, n. 1, p. e9, doi. 10.2337/dc10-1142
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- Publication type:
- Article
HDL cholesterol as a diagnostic tool for clinical differentiation of GCK-MODY from HNF1A-MODY and type 1 diabetes in children and young adults.
- Published in:
- Clinical Endocrinology, 2011, v. 75, n. 3, p. 321, doi. 10.1111/j.1365-2265.2011.04052.x
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- Publication type:
- Article