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Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.
- Published in:
- Diabetologia, 2024, v. 67, n. 1, p. 113, doi. 10.1007/s00125-023-06030-2
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- Article
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
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- Acta Diabetologica, 2022, v. 59, n. 9, p. 1169, doi. 10.1007/s00592-022-01915-x
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- Article
Blastocystis in the faeces of children from six distant countries: prevalence, quantity, subtypes and the relation to the gut bacteriome.
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- Parasites & Vectors, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13071-021-04859-3
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- Article
Immunological Findings in Patients with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) and their Family Members: Are Heterozygotes Subclinically Affected?
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- Journal of Pediatric Endocrinology & Metabolism, 2002, v. 15, n. 9, p. 1491, doi. 10.1515/jpem.2002.15.9.1491
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- Article
IGF-I Resistance and Turner's Syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 1, p. 37, doi. 10.1515/jpem.2001.14.1.37
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- Article
Severe Hypoglycemia and Reduction of Insulin Requirement in a Girl with Insulin-Dependent Diabetes Mellitus: First Sign of a Craniopharyngioma.
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- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 5, p. 695, doi. 10.1515/jpem.1999.12.5.695
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- Article
Eukaryotic viruses in the fecal virome at the onset of type 1 diabetes: A study from four geographically distant African and Asian countries.
- Published in:
- Pediatric Diabetes, 2021, v. 22, n. 4, p. 558, doi. 10.1111/pedi.13207
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- Article
Klinický průběh a léčba lipodystrofických syndromů u dětí.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2024, v. 79, n. 4, p. 221
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- Article
Současný pohled na diagnostiku deficitu růstového hormonu u dětí a dospívajících.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2023, v. 78, p. 5
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- Article
Diabetes mellitus vázaný na cystickou fibrózu.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2023, v. 78, n. 5, p. 258, doi. 10.55095/cspediatrie2023/043
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- Article
Analoga GLP-1 v léčbě obezity u adolescentů. První praktické zkušenosti s podáváním liraglutidu.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2023, v. 78, n. 3, p. 176, doi. 10.55095/cspediatrie2023/024
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- Article
Současné možnosti farmakoterapie dětské obezity.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2023, v. 78, n. 2, p. 122
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- Article
Reguace eergetic rvvhy a deh chv.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2023, v. 78, n. 1, p. 48
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- Article
Současný pohled na etiologii vysokého vzrůstu dětí a dospívajících (2): Nesyndromický vysoký vzrůst.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, p. 18
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- Article
První zkušenosti s dlouhodobě působícím růstovým hormonem.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, p. 36
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- Publication type:
- Article
Současný pohled na etiologii vysokého vzrůstu dětí a dospívajících (1): Syndromy spojené s vysokým vzrůstem.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, p. 11
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- Article
Genetická různorodost monogenního diabetu na Ukrajině.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, n. 4, p. 214, doi. 10.55095/cspediatrie2022/034
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- Article
Gregor Mendel a řízení růstu dítěte: geny, molekuly a pediatrická klinická praxe.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, n. 4, p. 206, doi. 10.55095/cspediatrie2022/033
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- Article
Technologická revoluce v léčbě diabetu 1. typu.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, n. 2, p. 78, doi. 10.55095/cspediatrie2022/010
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- Article
Diferenciální diagnostika syndromu multisystémové zánětlivé odpovědi asociované s nákazou SARS-CoV-2 u dětí a mladistvých.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, n. 1, p. 34, doi. 10.55095/cspediatrie2022/005
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- Article
Dětský růst v zrcadle času - a věčný třetí percentil.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2020, v. 75, n. 4, p. 204
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- Publication type:
- Article
A Novel--192c/g Mutation in the Proximal P2 Promoter of the Hepatocyte Nuclear Factor-4α Gene (HNF4A) Associates With Late-Onset Diabetes.
- Published in:
- Diabetes, 2006, v. 55, n. 6, p. 1869, doi. 10.2337/db05-1684
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- Publication type:
- Article
Šíření nákazy SARS-CoV-2 mezi žáky základních škol: současný stav poznání.
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- Pediatrie pro Praxi, 2021, v. 22, n. 2, p. 87, doi. 10.36290/ped.2021.015
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- Article
Nadměrný růst u dětí a dospělých: nový klinický pohled, nové geny, nové fenotypy.
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- Journal of Czech Physicians / Časopis Lékařů Českých, 2017, v. 156, n. 5, p. 233
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- Article
Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms.
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- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2022, v. 166, n. 1, p. 63, doi. 10.5507/bp.2020.060
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- Article
Foreword.
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- Acta Paediatrica, 1995, v. 84, n. s411, p. 1, doi. 10.1111/j.1651-2227.1995.tb13849.x
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- Publication type:
- Article
Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.
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- European Journal of Endocrinology, 2016, v. 174, n. 4, p. K1, doi. 10.1530/EJE-15-1216
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- Article
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.
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- European Journal of Endocrinology, 2005, v. 153, n. 3, p. 389, doi. 10.1530/eje.1.01989
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- Article
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.
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- European Journal of Endocrinology, 2005, v. 152, n. 6, p. 869, doi. 10.1530/eje.1.01929
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- Article
SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 203, doi. 10.1159/000531996
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- Article
Integrative Role of the SALL4 Gene: From Thalidomide Embryopathy to Genetic Defects of the Upper Limb, Internal Organs, Cerebral Midline, and Pituitary.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 106, doi. 10.1159/000531452
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- Article
The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 1, p. 40, doi. 10.1159/000530521
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- Article
Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features.
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- Hormone Research in Paediatrics, 2022, v. 95, n. 5, p. 465, doi. 10.1159/000525823
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- Article
Invaluable Role of Consanguinity in Providing Insight into Paediatric Endocrine Conditions: Lessons Learnt from Congenital Hyperinsulinism, Monogenic Diabetes, and Short Stature.
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- Hormone Research in Paediatrics, 2022, v. 95, n. 1, p. 1, doi. 10.1159/000521210
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- Publication type:
- Article
Congenital Hyperinsulinism Caused by Novel Homozygous K<sub>ATP</sub> Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 1, p. 58, doi. 10.1159/000506476
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- Article
Paediatric Endocrinology Subspecialty – The European Map, 55 Years Later.
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- 2018
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- Publication type:
- Letter to the Editor
Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
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- Hormone Research in Paediatrics, 2017, v. 88, n. 2, p. 160, doi. 10.1159/000456544
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- Publication type:
- Article
A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 349, doi. 10.1159/000448097
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- Publication type:
- Article
Mutations and Pituitary Morphology in a Series of 82 Patients with PROP1 Gene Defects.
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- Hormone Research in Paediatrics, 2011, v. 76, n. 5, p. 348, doi. 10.1159/000332693
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- Publication type:
- Article
Metabolic Impact of Growth Hormone Treatment in Short Children Born Small for Gestational Age.
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- Hormone Research in Paediatrics, 2011, v. 76, n. 4, p. 254, doi. 10.1159/000329729
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- Article
Abstracts.
- Published in:
- 2010
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- Publication type:
- Abstract
Choledochal Cyst with 17q12 Chromosomal Duplication.
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- Annals of Human Genetics, 2018, v. 82, n. 1, p. 48, doi. 10.1111/ahg.12221
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- Article
Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 10, p. 1147, doi. 10.1515/jpem-2019-0261
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- Publication type:
- Article
Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 7, p. 775, doi. 10.1515/jpem-2019-0107
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- Publication type:
- Article
An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 5, p. 479, doi. 10.1515/jpem-2019-0067
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- Publication type:
- Article
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 12, p. 1311, doi. 10.1515/jpem-2017-0163
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- Article
MODY in Ukraine: genes, clinical phenotypes and treatment.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1095, doi. 10.1515/jpem-2017-0075
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- Publication type:
- Article
Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 3, p. 319, doi. 10.1515/jpem-2016-0301
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- Publication type:
- Article
Low-dose insulin therapy in patients with cystic fibrosis and early-stage insulinopenia prevents deterioration of lung function: a 3-year prospective study.
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- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 7/8, p. 449, doi. 10.1515/jpem.2011.050
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- Article
HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes.
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- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 377, doi. 10.1515/jpem.2011.049
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- Publication type:
- Article