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dwarfism
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Case Report: Human Recombinant Growth Hormone Therapy in a DSH Cat Presented With Dwarfism
2021 |
Faculty of Science
publication
Metatropic Dysplasia as the Cause of Atlantoaxial Instability, Spinal Stenosis and Myelopathy. Case Report and Literature Review
2012 |
Second Faculty of Medicine
publication
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
2014 |
Second Faculty of Medicine
publication
Twenty years of "authentic" recombinant growth hormone in the treatment of pediatric patients
2007 |
Second Faculty of Medicine
publication
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
2018 |
Second Faculty of Medicine
publication
Early diagnosis of pycnodysostosis in a Czech toddler: a case report
2020 |
Second Faculty of Medicine
publication
Diastrophic dysplasia: a case report and review
2015 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Diastrophic dysplasia: a case report and review
2015 |
Second Faculty of Medicine
publication
Solve-RD: the ITHACA perspective
Publication without faculty affiliation