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novel mutations
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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
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
Idiopathic Aqueductal Stenosis and Developmental Speech Disorder in Children with Neurofibromatosis von Recklinghausen type 1-Two Case Reports
2012 |
Second Faculty of Medicine
publication
The importance of advanced parental age in the origin of neurofibromatosis type 1
2012 |
Second Faculty of Medicine
publication
Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports
2010 |
Second Faculty of Medicine
publication
Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1
2007 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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