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CAN genes
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Person
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MUDr. Bořivoj Petrák CSc.
Academic staff at Second Faculty of Medicine
40 publications
Publications
publication
Neurofibromatosis von Recklinghausen type I (NF1) - clinical picture in childhood, diagnosis and therapy
2023 |
Second Faculty of Medicine
publication
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years
2023 |
Second Faculty of Medicine
publication
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex
2022 |
Second Faculty of Medicine
publication
Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurof bromatosis type 1
2021 |
Second Faculty of Medicine
publication
Genotype/phenotype correlation in Czech tuberous sclerosis patients
2016 |
Second Faculty of Medicine
publication
Neurofibromatosis von Recklinghausen type 1 (NF1) - clinical picture and molecular-genetics diagnostic
2015 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Neurofibromatosis from the view of dermatologist
2015 |
Second Faculty of Medicine
publication
Tuberous Sclerosis Complex in children followed from neonatal period for prenatally diagnosed cardiac rhabdomyoma - two case reports
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
2013 |
Second Faculty of Medicine
publication
Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes
2013 |
Second Faculty of Medicine
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