Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Angelmanův syndrom"'
Autor:
HOLEČKOVÁ, Karolína
Angelman syndrome (Happy puppet syndrome) is a rare genetic disease. It is a microdeletion syndrome, mostly caused by maternal deletion of chromosome 15q11-q13, or by paternal uniparental disomy of chromosome 15, or by other mutation (for example mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2186::c49b222f48a3fc2e78e4a2d9890549bc
http://www.nusl.cz/ntk/nusl-251956
http://www.nusl.cz/ntk/nusl-251956
Akademický článek
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Autor:
Draberová, Hana
The Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurobehavioural syndromes caused by loss of paternally or maternally expressed imprinted genes chromosom region 15q11-q13. Differential gene expression leads to differential phenotype. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2186::a3f08661d4dce7d5619012068e115609
http://www.nusl.cz/ntk/nusl-344536
http://www.nusl.cz/ntk/nusl-344536
Autor:
Syding, Linn Amanda
Angelman syndrome (AS) is a neurodevelopmental disease found in 1 to 10,000 to 40,000 births, exhibiting an equal gender ratio. Key characteristics of the disease include an ataxic gait with tremor, severe mental retardation, profound speech impairme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2186::e233cb9881867a23e555d212487c1218
http://www.nusl.cz/ntk/nusl-520640
http://www.nusl.cz/ntk/nusl-520640
Autor:
Sivá, Monika
Ddi1-like protein family has been recently raised into the spotlight by the scientific community due to its important roles in cellular homeostasis maintenance. It represents a specific group among shuttling proteins of the ubiquitin-proteasome syste
Externí odkaz:
http://www.nusl.cz/ntk/nusl-396154
Autor:
Sivá, Monika
Ddi1-like protein family has been recently raised into the spotlight by the scientific community due to its important roles in cellular homeostasis maintenance. It represents a specific group among shuttling proteins of the ubiquitin-proteasome syste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1cd34fed4bd4ba58b7af0fbb77d6cd4d
http://www.nusl.cz/ntk/nusl-396154
http://www.nusl.cz/ntk/nusl-396154
Autor:
Doubková, Světla
Developmental specifics of individuals with Angelman and Prader - Willi syndrome as the basis for special educator's work The thesis deals in a complex way with the issue of two rare syndromes - Angelman and Prader- Willi syndrome. It describes the m
Externí odkaz:
http://www.nusl.cz/ntk/nusl-335018
Autor:
Pospíšilová, L.1 lenka.pospisilova@demosthenes.cz
Publikováno v:
Česká a Slovenská Neurologie a Neurochirurgie. 2022, Vol. 85 Issue 6, p515-519. 5p.
Publikováno v:
Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie. 2019, Vol. 74 Issue 4, p205-210. 6p.