Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F08%3A4565" target="_blank" >RIV/00064203:_____/08:4565 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/08:4565
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type
Original language description
To delineate a new syndrome of brain dysgenesis and cutis laxa based on the description of 11 patients belonging to nine unrelated families recruited through an international collaboration effort.
Czech name
Cobblestone-like (podobná) cerebrální dysgeneze a porucha glykosylace u kong. cutis laxa Debré typ.
Czech description
Definování nového syndromu mozkové dysgeneze a cutis laxa na podkladě analýzy fenotypu 11 pacientů z rodin různých nepříbuzných devíti národností.
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2008
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Neurology
ISSN
0028-3878
e-ISSN
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Volume of the periodical
71
Issue of the periodical within the volume
20
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
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UT code for WoS article
000260795700008
EID of the result in the Scopus database
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