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mutations
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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
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
For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome
2018 |
Central Library of Charles University, Second Faculty of Medicine
publication
Choledochal Cyst with 17q12 Chromosomal Duplication
2018 |
Second Faculty of Medicine
publication
Monogenic form of autoimmune diabetes as a part of dysregulation of immune system
2018 |
Second Faculty of Medicine
publication
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
2017 |
Second Faculty of Medicine
publication
Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
2017 |
Second Faculty of Medicine
publication
Novel glucokinase gene mutation in the first Macedonian family tested for MODY
2017 |
Second Faculty of Medicine
publication
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
2017 |
Second Faculty of Medicine
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