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RNDr. Lenka Elblová Ph.D.
Externí osoba na 2. l ékařská fakulta
37 publikací
Publikace
publication
The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)
2024 |
2. lékařská fakulta
publication
Analysis of children with familial short stature: who should be indicated for genetic testing?
2023 |
2. lékařská fakulta
publication
Response to Letter to the Editor from Youn Hee Jee: Familial Short Stature - A New Phenotype of Growth Plate Collagenopathies
2022 |
2. lékařská fakulta
publication
Familial short stature - a novel phenotype of growth plate collagenopathies
2021 |
2. lékařská fakulta
publication
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy
2020 |
2. lékařská fakulta
publication
Význam acidolabilní podjednotky (ALS) v etiologii a v diagnostice malého vzrůstu
2020 |
2. lékařská fakulta
publication
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH
2019 |
2. lékařská fakulta
publication
For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome
2018 |
Ústřední knihovna, 2. lékařská fakulta
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 |
2. lékařská fakulta
publication
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
2017 |
2. lékařská fakulta
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