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Down´s syndrome
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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
Familial short stature - a novel phenotype of growth plate collagenopathies
2021 |
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
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
Monogenic form of autoimmune diabetes as a part of dysregulation of immune system
2018 |
Second Faculty of Medicine
publication
Overgrowth in children and in adults: novel clinical view, novel genes, novel phenotypes
2017 |
Second Faculty of Medicine
publication
Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review
2015 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Adenovirus 36 infection: a role in dietary intake and response to inpatient weight management in obese girls
2015 |
Faculty of Science, Third Faculty of Medicine
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
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