Zobrazeno 1 - 6
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pro vyhledávání: '"Carlos Roberto da Fonseca"'
Autor:
Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Clinton Llerena Junior, Mana Mehrjouy, Niels Tommerup, Elenice Ferreira Bastos
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background Mesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral synostoses and multiple congenital malformations which is described as a contiguous deletion
Externí odkaz:
https://doaj.org/article/e84d1fd76bd94baeb08f9cf4c66b74fb
Autor:
Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Juan Clinton Llerena, Niels Tommerup, Elenice Ferreira Bastos
Background: Apparently balanced translocations (ABTs) are a widely used tool for delineating candidate regions for genotype-phenotype correlation of Mendelian diseases, and with the advance of new technologies new methods are emerging to help us in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96d0491aa38e542bb1323cf2d9b34899
https://doi.org/10.21203/rs.3.rs-2288275/v1
https://doi.org/10.21203/rs.3.rs-2288275/v1
Autor:
Elenice Ferreira Bastos, Carlos Roberto da Fonseca, Patrícia Santana Correia, Cristiane Queila Ebraim Santos, Ingrid Bendas Feres Lima, Anna Luiza Vaz Serrão, Lúcia de Fátima Marques de Moraes, Juan Clinton Llerena Junior
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8057a7f031673a40cb76ef071bb1e038
https://doi.org/10.22533/at.ed.4021915089
https://doi.org/10.22533/at.ed.4021915089
Autor:
Carlos Roberto da Fonseca, Kleber da Silva Figueiredo, Lúcia de Fátima Marques de Moraes, Elenice Ferreira Bastos, Sara Fabíola da Silva Oliveira, Juan C. Llerena, Maria de Jesus Esteves Camilo, Ingrid Bendas Feres Lima, Anna Luiza Vaz Serrão
Publikováno v:
International Journal of Genetics and Genomics. 7:50
The Miller-Dieker syndrome (MDS) is a severe neurological disorder characterized by lissencephaly, facial dysmorphies, global developmental delay and severe seizures. A deletion at 17p13.3, including the lissencephaly gene (LIS1), is usually present
Autor:
Vera Lúcia da Silva Moura, Lúcia de Fátima Marques de Moraes, Elenice Ferreira Bastos, Anna Luiza Vaz Serrão, Patrícia Santana Correia, Carlos Roberto da Fonseca, Letícia Lopes Cabral Guimarães da Fonseca, Luana Luana Silva, Cristiane Queila Ebraim Santos, Juan C. Llerena, Kleber da Silva Figueiredo
Publikováno v:
Semina: Ciências Biológicas e da Saúde. 38:248
Síndrome de Angelman (SA) é um transtorno neurocognitivo caracterizado por retardo motor e intelectual grave, distúrbio de movimento ou equilíbrio, comportamentos anormais típicos e limitações graves na fala e na linguagem, hipotonia e epileps
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