Suchergebnisse - "Janner, Marco"

PubPharm (48)

1

A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient

enthalten in: International journal of molecular sciences | 2024

von Rojas Velazquez, M. | Blanco, F. | Ayala-Lugo, A. | +7

2

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

enthalten in: EBioMedicine | 2024

von Kouri, C. | Sommer, G. | Martinez de Lapiscina, I. | +73

3

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A : Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes

enthalten in: Molecular syndromology | 2023

von Grassi, M. | Laubscher, B. | Pandey, A. | +8

4

Evidence for protein leverage in a general population sample of children and adolescents

enthalten in: European journal of clinical nutrition | 2023

von Saner, C. | Senior, A. | Zhang, H. | +12

5

Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases : application to Graves' disease

enthalten in: Frontiers in medicine | 2023

von Steffens, B. | Koch, G. | Gächter, P. | +10

6

Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases: application to Graves' disease

Erschienen: Konstanz, KOPS Universität Konstanz, 2023

von Steffens, B. | Koch, G. | Gächter, P. | +7

7

Impact of Type 1 Diabetes Mellitus on Bone Health in Children

enthalten in: Hormone research in paediatrics | 2022

von Janner, M. | Saner, C.

8

Modeling of levothyroxine in newborns and infants with congenital hypothyroidism : challenges and opportunities of a rare disease multi-center study

enthalten in: Journal of pharmacokinetics and pharmacodynamics | 2021

von Koch, G. | Steffens, B. | Leroux, S. | +10

9

Modest decrease in severity of obesity in adolescence associates with low arterial stiffness

enthalten in: Atherosclerosis | 2021

von Saner, C. | Laitinen, T. | Nuotio, J. | +10

10

Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study

enthalten in: Journal of pharmacokinetics and pharmacodynamics | 2021

von Koch, G. | Steffens, B. | Leroux, S. | +10

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