[PDF][PDF] The building process of the functional paraspeckle with long non-coding RNAs
T Yamazaki, T Hirose - Front Biosci (Elite Ed), 2015 - article.imrpress.com
Nuclei of mammalian cells are highly organized and composed of distinct subnuclear
structures termed nuclear bodies. Paraspeckles are subnuclear structures that form around …
structures termed nuclear bodies. Paraspeckles are subnuclear structures that form around …
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic
limb shortening, genital hypoplasia, and distinctive facial features and for which both …
limb shortening, genital hypoplasia, and distinctive facial features and for which both …
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus
F Quintero-Rivera, QJ Xi… - Human molecular …, 2015 - academic.oup.com
Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous
subset of congenital heart disease for which gene identification has been difficult. We …
subset of congenital heart disease for which gene identification has been difficult. We …
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and …
H Yang, G Douglas… - Molecular …, 2015 - molecularcasestudies.cshlp.org
Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics,
and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using …
and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using …
On the genetics of sleep disorders: genome-wide association studies and beyond
MJ Parsons - Advances in Genomics and Genetics, 2015 - Taylor & Francis
Sleep is an essential behavior, yet much of its underlying functions are still unknown. The
disruption of sleep can led to a variety of health consequences. Family and twin studies …
disruption of sleep can led to a variety of health consequences. Family and twin studies …
[PDF][PDF] 先天性大脳白質形成不全症における遺伝要因の包括的検討
市野井那津子 - 2015 - core.ac.uk
先天性大脳白質形成不全症における遺伝要因の包括 的検討 Page 1 先天性大脳白質形成不全症
における遺伝要因の包括 的検討 著者 市野井 那津子 学位授与機関 Tohoku University 学位授与 …
における遺伝要因の包括 的検討 著者 市野井 那津子 学位授与機関 Tohoku University 学位授与 …