Zobrazeno 1 - 2
of 2
pro vyhledávání: '"L S E, Pimenta"'
Autor:
Vera Ayres Meloni, Maria Isabel Melaragno, O.F.A. Bueno, Claudia Berlim de Mello, L S E Pimenta, L. M. Benedetto, Sylvia Satomi Takeno
Publikováno v:
Journal of Intellectual Disability Research.
BACKGROUND The association of behavioural phenotype assessment with cytogenomic characterisation may provide a better comprehension of genotype-phenotype correlations in syndromes caused by chromosomal abnormalities, such as 18p deletion syndrome. ME
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c064068f3d3d2f378d4c09e95c054018
https://doi.org/10.1111/jir.12568
https://doi.org/10.1111/jir.12568
Autor:
R S, Honjo, C B, Mello, L S E, Pimenta, E C, Nuñes-Vaca, L M, Benedetto, R B F, Khoury, D M, Befi-Lopes, C A, Kim
Publikováno v:
Journal of intellectual disability research : JIDR. 62(6)
Cri du Chat syndrome (CdCS) is a genetic syndrome caused by deletions in the short arm of chromosome 5. Although the main clinical features of CdCS are well known, the neurocognitive and behavioural characteristics of the phenotype are rarely describ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::174c0b088779b9b8b9d596e7250774a0
https://pubmed.ncbi.nlm.nih.gov/29460462
https://pubmed.ncbi.nlm.nih.gov/29460462