Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Heloisa Barbosa Pena"'
Autor:
Carolina Maria de Araújo dos Santos, Ana Helena Heller, Heloisa Barbosa Pena, Sérgio Danilo Junho Pena
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Genetic studies performed in consanguineous couples suggest that the reproductive risk that distinguish them from other couples in the general population is related to autosomal recessive (AR) diseases. This risk is scattered among the thousands of k
Externí odkaz:
https://doaj.org/article/41389fe43cd1428aba512ea984524143
Autor:
Natália Duarte Linhares, Maíra Cristina Menezes Freire, Raony Guimarães Corrêa do Carmo Lisboa Cardenas, Heloisa Barbosa Pena, Katherine Lachlan, Bruno Dallapiccola, Carlos Bacino, Bruno Delobel, Paul James, Ann-Charlotte Thuresson, Göran Annerén, Sérgio D. J. Pena
Publikováno v:
Genetics and Molecular Biology, Vol 39, Iss 3, Pp 349-357
Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibi
Externí odkaz:
https://doaj.org/article/74c8bbfdc24544bbae15febf9d7b19e5