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prof. MUDr. Pavel Seeman Ph.D.
Academic staff at Second Faculty of Medicine
162 publications
Publications
publication
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman
2013 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
publication
Oculopharyngeal muscular dystrophy in the population of the Czech Republic
2013 |
Second Faculty of Medicine
publication
Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
2013 |
Second Faculty of Medicine
publication
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus
2013 |
Second Faculty of Medicine
publication
Congenital Myasthenia as a Cause of Respiratory Failure in two Infants and a Toddler - Case Reports
2012 |
Second Faculty of Medicine
publication
GDAP1 mutations in Czech families with early-onset CMT
2007 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general gypsy population and individual subisolates
2007 |
Second Faculty of Medicine
publication
Hereditary peripheral neuropathy
2006 |
Second Faculty of Medicine
publication
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
2005 |
Second Faculty of Medicine
publication
Paradoxes of neurogenetic programme: Charcoot Marie Tooth Diseases (CMT) - Hereditary motor sensory neuropathy (HMSN)
2003 |
Second Faculty of Medicine
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