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Variant
Person
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Person
Publication
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RNDr. Lenka Elblová Ph.D.
External person at Second Faculty of Medicine
37 publications
Publications
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
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
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
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH
2019 |
Second Faculty of Medicine
publication
Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
2019 |
Second Faculty of Medicine
publication
MODY in Ukraine: genes, clinical phenotypes and treatment
2017 |
Second Faculty of Medicine
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