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de-novo mutations
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MUDr. Renata Cíbochová
Academic staff at Second Faculty of Medicine
12 publications
Publications
publication
Congenital hypomyelination in conjunction with de-novo mutation in the gene for the peripheral myelin protein 22 - the first confirmed case in the CR and review of the literature
2002 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Neonatal case reports
2020 |
Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found
2020 |
Second Faculty of Medicine
publication
Křeče u donošeného novorozence - kazuistika
2019 |
Second Faculty of Medicine
publication
First cases in the Czech Republic of the Hallervorden-Spatz Disease resulting from mutation in the Pantothenate Kinase 2 Gene
2005 |
Second Faculty of Medicine
publication
Neonatal morbidity and long-term outcome of infants with intrauterine growth restriction born at tertiary center
2004 |
Second Faculty of Medicine
publication
Neonatal moribidity and neuromotor development of infants with intrauterine growth restriction (IUGR)
2004 |
Second Faculty of Medicine
publication
IUGR - pathokinesiologie in newborn and suclings
+1
2002 |
Second Faculty of Medicine, Central Library of Charles University
publication
Apallic Syndrome in Children: Development and Prognosis
2002 |
Second Faculty of Medicine
publication
Impact of fetal growth restriction on neurodevelopmental outcome during 2 years of life
Publication without faculty affiliation
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