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PT conditions
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doc. MUDr. Petra Laššuthová Ph.D.
Academic staff at Second Faculty of Medicine
62 publications
Publications
publication
A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy
2021 |
Second Faculty of Medicine
publication
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant
2021 |
Second Faculty of Medicine
publication
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome
2020 |
Second Faculty of Medicine
publication
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
2020 |
Second Faculty of Medicine
publication
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
2018 |
Second Faculty of Medicine
publication
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
2016 |
Second Faculty of Medicine
publication
Hereditary motor neuropathies
2016 |
Second Faculty of Medicine
publication
X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports
2013 |
First Faculty of Medicine, Second Faculty of Medicine
publication
A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy
2024 |
Second Faculty of Medicine, Central Library of Charles University
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
Second Faculty of Medicine
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