Search

Your search keyword '"Oshima, Junko"' showing total 4 results
Start Over Author "Oshima, Junko" Journal european journal of human genetics
4 results on '"Oshima, Junko"'

1. Truncated prelamin A expression in HGPS-like patients: a transcriptional study

Author

Barthélémy, Florian, primary, Navarro, Claire, additional, Fayek, Racha, additional, Da Silva, Nathalie, additional, Roll, Patrice, additional, Sigaudy, Sabine, additional, Oshima, Junko, additional, Bonne, Gisèle, additional, Papadopoulou-Legbelou, Kyriaki, additional, Evangeliou, Athanasios E, additional, Spilioti, Martha, additional, Lemerrer, Martine, additional, Wevers, Ron A, additional, Morava, Eva, additional, Robaglia-Schlupp, Andrée, additional, Lévy, Nicolas, additional, Bartoli, Marc, additional, and De Sandre-Giovannoli, Annachiara, additional

Published
2015
Full Text
View/download PDF

4. Clinical utility gene card for: Werner Syndrome - Update 2014.

Author

Hisama, Fuki M, Kubisch, Christian, Martin, George M, and Oshima, Junko

Subjects
WERNER'S syndrome, GENETIC disorder diagnosis, PROGERIA, PREMATURE aging (Medicine), EXONS (Genetics), GENETICS, DIAGNOSIS
Abstract

The article presents a study which examines a clinical utility gene card for the diagnosis of Werner disease. Topics of the study include the analysis of mutations of exon as well as genomic rearrangement, the validation of assessing for nucleotide and proteins sequencing and the estimated frequency of the disease. The diagnostic features of Werner's syndrome disease are also presented.

Published
2015
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results