ℹ️
🇬🇧
Search
Search for people relevant for "Simpson-Golabi-Behmel syndrome"
Simpson-Golabi-Behmel syndrome
Person
Class
Person
Publication
Programmes
RNDr. Lenka Elblová Ph.D.
External person at Second Faculty of Medicine
37 publications
Publications
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
Overgrowth in children and in adults: novel clinical view, novel genes, novel phenotypes
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
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
Load more publications (27)
Loading network view...