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use disorders
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MUDr. Lukáš Plachý Ph.D.
Academic staff at Second Faculty of Medicine
36 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
Genetic testing of children with familial tall stature: is it worth doing?
2024 |
Second Faculty of Medicine
publication
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
2023 |
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
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy
2020 |
Second Faculty of Medicine
publication
Noonan syndrome and other RASopathies: Aetiology, diagnostic procedures and therapy
2020 |
Second Faculty of Medicine
publication
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH
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 |
Second Faculty of Medicine, Central Library of Charles University
publication
Growth plate disorders causing familiar short stature
2018 |
Second Faculty of Medicine
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