Found: 27
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Resource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders.
- Published in:
- Pediatric Rheumatology, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12969-024-00963-7
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- Publication type:
- Article
Secondary use of patient data within decentralized studies using the example of rare diseases in Germany: A data scientist's exploration of process and lessons learned.
- Published in:
- Digital Health, 2024, p. 1, doi. 10.1177/20552076241265219
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- Publication type:
- Article
Arginine-Stimulated Copeptin-Based Diagnosis of Central Diabetes Insipidus in Children and Adolescents.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 3, p. 270, doi. 10.1159/000532015
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- Publication type:
- Article
Resource use and costs of transitioning from pediatric to adult care for patients with chronic kidney disease.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 1, p. 251, doi. 10.1007/s00467-023-06075-w
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- Publication type:
- Article
Longitudinal assessment of bone health index as a measure of bone health in short-statured children before and during treatment with recombinant growth hormone.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 9, p. 824, doi. 10.1515/jpem-2023-0084
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- Publication type:
- Article
Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 3, p. 259, doi. 10.1515/jpem-2018-0298
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- Publication type:
- Article
Markers of Fertility in Adolescents With Chronic Endocrinopathies at Transition From Paediatric to Adult Care.
- Published in:
- Endocrinology, Diabetes & Metabolism, 2024, v. 7, n. 4, p. 1, doi. 10.1002/edm2.493
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- Publication type:
- Article
An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee.
- Published in:
- 2021
- By:
- Publication type:
- journal article
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Precision medicine in rare diseases: What is next?
- Published in:
- Journal of Internal Medicine, 2023, v. 294, n. 4, p. 397, doi. 10.1111/joim.13655
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- Publication type:
- Article
Resource use and costs of transitioning from paediatric to adult care for patients with chronic endocrine disease.
- Published in:
- Clinical Endocrinology, 2024, v. 101, n. 2, p. 121, doi. 10.1111/cen.15105
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- Publication type:
- Article
Topical glucocorticoid application causing iatrogenic Cushing's syndrome followed by secondary adrenal insufficiency in infants: two case reports.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
A retrospective analysis of growth hormone therapy in children with Schaaf–Yang syndrome.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 3, p. 298, doi. 10.1111/cge.14000
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- Publication type:
- Article
Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 2, p. 219, doi. 10.1007/s10545-016-0002-6
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- Publication type:
- Article
Kidney re-transplantation in a child across the barrier of persisting angiotensin II type I receptor antibodies.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 3, p. 725, doi. 10.1007/s00467-020-04879-8
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- Publication type:
- Article
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2386, doi. 10.1093/hmg/ddac034
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- Publication type:
- Article
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
- Published in:
- Hormone Research in Paediatrics, 2020, v. 93, n. 1, p. 16, doi. 10.1159/000507114
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- Publication type:
- Article
Clinical Features and Response to Treatment of Prolactinomas in Children and Adolescents: A Retrospective Single-Centre Analysis and Review of the Literature.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 157, doi. 10.1159/000486280
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- Publication type:
- Article
Long-Term Neurodevelopmental Outcome of Children Treated with Tri-Iodothyronine after Cardiac Surgery: Follow-Up of a Double-Blind, Randomized, Placebo-Controlled Study.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 130, doi. 10.1159/000381711
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- Publication type:
- Article
Guanine Nucleotide-Binding Protein α Subunit Hypofunction in Children with Short Stature and Disproportionate Shortening of the 4th and 5th Metacarpals.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 3, p. 196, doi. 10.1159/000356928
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- Publication type:
- Article
Virilization of a Young Girl Caused by Concomitant Ectopic and Intra-Adrenal Adenomas of the Adrenal Cortex.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Virtual Patients in continuing medical education and residency training: a pilot project for acceptance analysis in the framework of a residency revision course in pediatrics.
- Published in:
- GMS Zeitschrift für Medizinische Ausbildung, 2015, v. 32, n. 5, p. 1, doi. 10.3205/zma000993
- By:
- Publication type:
- Article
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).
- Published in:
- Endocrine (1355008X), 2024, v. 85, n. 1, p. 444, doi. 10.1007/s12020-023-03581-7
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- Publication type:
- Article
Near-Adult Heights and Adult Height Predictions Using Automated and Conventional Greulich–Pyle Bone Age Determinations in Children with Chronic Endocrine Diseases.
- Published in:
- Indian Journal of Pediatrics, 2022, v. 89, n. 7, p. 692, doi. 10.1007/s12098-021-04009-8
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- Publication type:
- Article
Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1862, doi. 10.3390/genes12121862
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- Publication type:
- Article
Praxiseinsatz Elektronischer Patientenakten: Erkenntnisse aus 2 Versorgungsprojekten in Zentren für Seltene Erkrankungen.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2022, v. 65, n. 11, p. 1143, doi. 10.1007/s00103-022-03599-8
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- Publication type:
- Article
Relation of health‐related quality of life to near final height and body composition in adolescents with chronic endocrinopathies during transition period.
- Published in:
- Clinical Endocrinology, 2020, v. 93, n. 6, p. 696, doi. 10.1111/cen.14287
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- Publication type:
- Article