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developmental anomalies
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RNDr. Lenka Elblová Ph.D.
External person at Second Faculty of Medicine
37 publications
Publications
publication
Liver, kidneys and diabetes: three faces of HNF1B gene deficit
2014 |
First Faculty of Medicine, Faculty of Physical Education and Sport, 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
publication
Familial short stature - a novel phenotype of growth plate collagenopathies
2021 |
Second Faculty of Medicine
publication
A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes
2021 |
Second Faculty of Medicine
publication
Selhání střeva u dětí
2020 |
Central Library of Charles University, 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
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