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RNDr. Lenka Elblová Ph.D.
External person at Second Faculty of Medicine
37 publications
Publications
publication
Familial short stature - a novel phenotype of growth plate collagenopathies
2021 |
Second Faculty of Medicine
publication
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy
2020 |
Second Faculty of Medicine
publication
The role of acid-labile subunit (Als) in aetiology and diagnostic procedures of short stature
2020 |
Second Faculty of Medicine
publication
Monogenic diabetes MODY in childhood: a retrospective study of patients diagnosed at the Department of Pediatrics, University Hospital in Pilsen in 2000-2017
2019 |
Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
2017 |
Second Faculty of Medicine
publication
The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)
2024 |
Second Faculty of Medicine
publication
Analysis of children with familial short stature: who should be indicated for genetic testing?
2023 |
Second Faculty of Medicine
publication
Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes
2022 |
Second Faculty of Medicine, Faculty of Mathematics and Physics
publication
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young
2022 |
Second Faculty of Medicine, Faculty of Mathematics and Physics
publication
Response to Letter to the Editor from Youn Hee Jee: Familial Short Stature - A New Phenotype of Growth Plate Collagenopathies
2022 |
Second Faculty of Medicine
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