ℹ️
🇬🇧
Search
Search for people relevant for "PHENOTYPE"
PHENOTYPE
Person
Class
Person
Publication
Programmes
RNDr. Lenka Elblová Ph.D.
External person at Second Faculty of Medicine
37 publications
Publications
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
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy
2020 |
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
Choledochal Cyst with 17q12 Chromosomal Duplication
2018 |
Second Faculty of Medicine
publication
MODY in Ukraine: genes, clinical phenotypes and treatment
2017 |
Second Faculty of Medicine
publication
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
2017 |
Second Faculty of Medicine
publication
Overgrowth in children and in adults: novel clinical view, novel genes, novel phenotypes
2017 |
Second Faculty of Medicine
Load more publications (27)
Loading network view...