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compound heterozygote
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MUDr. Alena Leiská
Academic staff at First Faculty of Medicine
9 publications
Publications
publication
Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene
2019 |
First Faculty of Medicine
publication
Pierpont syndrome due to mutation c.1337A > G in TBL1XR1 gene
2022 |
First Faculty of Medicine
publication
Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene
2020 |
First Faculty of Medicine
publication
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families
2018 |
First Faculty of Medicine
publication
X-linked Adrenoleukodystrophy in Twenty One Czech Patients
2006 |
First Faculty of Medicine
publication
X-linked Adrenoleukodystrophy in Twenty One Czech Patients
2006 |
Faculty of Physical Education and Sport
publication
Complex long-term follow up of children with bronchopulmonary dysplasia
2005 |
First Faculty of Medicine
publication
Early versus delayed surfactant administration in extremely premature neonates with respiratory distress syndrome ventilated by high-frequency oscillatory ventilation
2002 |
First Faculty of Medicine
publication
Recidivující pankreatitida
Publication without faculty affiliation
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