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Pelizaeus-Merzbacher
Person
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Person
Publication
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prof. MUDr. Pavel Seeman Ph.D.
Academic staff at Second Faculty of Medicine
162 publications
Publications
publication
A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C > A, Ala242Glu) at the 'Jimpy(msd) codon' in the PLP gene
2002 |
Second Faculty of Medicine
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
Second Faculty of Medicine
publication
The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation
2023 |
Second Faculty of Medicine
publication
A progressive KY myopathy could be caused by a missense pathogenic variant
2023 |
Second Faculty of Medicine
publication
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
2023 |
Second Faculty of Medicine
publication
SPG11: clinical and genetic features of seven Czech patients and literature review
2022 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome
2022 |
Second Faculty of Medicine
publication
Hereditary neuropathies in childhood
2022 |
Second Faculty of Medicine
publication
Basics of pediatric neurology
2021 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Pediatric neurology
2021 |
First Faculty of Medicine, Second Faculty of Medicine
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