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muscle hypotonia
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Congenital Myasthenia as a Cause of Respiratory Failure in two Infants and a Toddler - Case Reports
2012 |
Second Faculty of Medicine
publication
Idiopathic Infantile Hypercalcaemia in 5-month Old Girl
2011 |
Faculty of Medicine in Hradec Králové
publication
Laterality in children: cerebellar dominance, handedness, footedness and hair whorl
2009 |
First Faculty of Medicine
publication
Novel Mutations in the TAZ Gene in Patients with Barth Syndrome
2013 |
First Faculty of Medicine
publication
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case
2019 |
First Faculty of Medicine
publication
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism
2000 |
Second Faculty of Medicine
publication
Phosphomannomutase 2 deficiency: clinical, biochemical and molecular analyses in 22 Czech patients
2018 |
First Faculty of Medicine