Daniela Choukair

Heidelberg, BW 69120, Germany

Last Updated: 09/26/2026

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Found 35 publications

Transaldolase deficiency - natural disease course towards adulthood.

Transaldolase deficiency - natural disease course towards adulthood.

Journal: Molecular genetics and metabolism

Published: January 08, 2026

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Bone Health Index (BoneXpert) and parameters of peripheral quantitative computed tomography indicate overall adequate bone health in adolescents with chronic endocrine diseases at time of transition.

Bone Health Index (BoneXpert) and parameters of peripheral quantitative computed tomography indicate overall adequate bone health in adolescents with chronic endocrine diseases at time of transition.

Journal: PloS one

Published: May 06, 2025

Decentralized rare disease studies in Germany: first results and hurdles of secondary use of patient data.

Decentralized rare disease studies in Germany: first results and hurdles of secondary use of patient data.

Journal: BMC medical informatics and decision making

Published: January 13, 2025

Targeted treatment of hypophosphatemia with trametinib in HRAS-related mosaic RASopathy.

Targeted treatment of hypophosphatemia with trametinib in HRAS-related mosaic RASopathy.

Journal: Orphanet journal of rare diseases

Published: December 01, 2024

Insulin-Induced Copeptin Response in Children and Adolescents to Diagnose Arginine Vasopressin Deficiency.

Insulin-Induced Copeptin Response in Children and Adolescents to Diagnose Arginine Vasopressin Deficiency.

Journal: Hormone research in paediatrics

Published: July 15, 2024

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.

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.

Journal: Digital health

Published: March 10, 2024

Resource use and costs of transitioning from paediatric to adult care for patients with chronic endocrine disease.

Resource use and costs of transitioning from paediatric to adult care for patients with chronic endocrine disease.

Journal: Clinical endocrinology

Published: February 20, 2024

Markers of Fertility in Adolescents With Chronic Endocrinopathies at Transition From Paediatric to Adult Care.

Markers of Fertility in Adolescents With Chronic Endocrinopathies at Transition From Paediatric to Adult Care.

Journal: Endocrinology, diabetes & metabolism

Published: October 20, 2023

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).

Journal: Endocrine

Published: July 24, 2023

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: July 19, 2023

Precision medicine in rare diseases: What is next?

Precision medicine in rare diseases: What is next?

Journal: Journal of internal medicine

Published: May 22, 2023

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Last Updated: 09/26/2026