Found: 14
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A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3143, doi. 10.3390/ijms25063143
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- Article
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 4, p. 347, doi. 10.1159/000529306
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- Article
Evidence for protein leverage in a general population sample of children and adolescents.
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- European Journal of Clinical Nutrition, 2023, v. 77, n. 6, p. 652, doi. 10.1038/s41430-023-01276-w
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- Article
Impact of Type 1 Diabetes Mellitus on Bone Health in Children.
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- Hormone Research in Paediatrics, 2022, v. 95, n. 3, p. 205, doi. 10.1159/000521627
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- Article
Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study.
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- Journal of Pharmacokinetics & Pharmacodynamics, 2021, v. 48, n. 5, p. 711, doi. 10.1007/s10928-021-09765-w
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- Article
Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities.
- Published in:
- 2020
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- Publication type:
- journal article
Prescription of vitamin D among Swiss pediatricians.
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- 2019
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- Publication type:
- journal article
Circadian and ultradian cardiovascular rhythmicity in obese children.
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- 2016
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- Publication type:
- journal article
Early loading of titanium dental implants with an intra-operatively conditioned hydrophilic implant surface after 21 days of healing.
- Published in:
- Clinical Oral Implants Research, 2016, v. 27, n. 7, p. 875, doi. 10.1111/clr.12706
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- Article
IGHD II: A Novel GH-1 Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion.
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- 2015
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- Publication type:
- journal article
Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study.
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- International Journal of Pediatric Endocrinology, 2013, v. 2013, n. 1, p. 1, doi. 10.1186/1687-9856-2013-21
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- Article
Impact of Estrogen Replacement throughout Childhood on Growth, Pituitary-Gonadal Axis and Bone in a 46,XX Patient with CYP19A1 Deficiency.
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- Hormone Research in Paediatrics, 2012, v. 78, n. 4, p. 261, doi. 10.1159/000341585
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- Publication type:
- Article
Influence of Growth Hormone (GH) Receptor Deletion of Exon 3 and Full-Length Isoforms on GH Response and Final Height in Patients with Severe GH Deficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 974, doi. 10.1210/jc.2007-1382
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- Article
Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein.
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- European Journal of Endocrinology, 2006, v. 155, n. 1, p. 143, doi. 10.1530/eje.1.02172
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- Article