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Studium
RNDr. Anna Uhrová Mészárosová
Akademický pracovník na 2. lékařská fakulta
21 publikací
Publikace
publication
Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 7
2024 |
2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
publication
SPG11: clinical and genetic features of seven Czech patients and literature review
2022 |
2. lékařská fakulta, 1. lékařská fakulta
publication
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021 |
2. lékařská fakulta
publication
Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing
2020 |
2. lékařská fakulta, 1. lékařská fakulta
publication
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found
2020 |
2. lékařská fakulta
publication
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers
2020 |
2. lékařská fakulta
publication
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant
2020 |
2. lékařská fakulta
publication
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
2019 |
2. lékařská fakulta
publication
Genetika hereditárních spastických paraplegií
2019 |
2. lékařská fakulta
publication
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
2018 |
2. lékařská fakulta
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