Toshifumi Suzuki

12PUBLICATIONS
49CO-AUTHORS
NeonatologyObstetrics and gynaecologyEpigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (12)

|Oct 16, 2024
Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

Li Fu, Yuka Yamamoto, Rie Seyama

|Feb 06, 2023
Cervical Cerclage to Prevent Intrauterine Balloon Prolapse.

Toshifumi Suzuki, Jun Takeda, Rie Seyama

|Nov 10, 2022
Distal 2q duplication in a patient with intellectual disability.

Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake

|Nov 04, 2020
Whole exome sequencing of fetal structural anomalies detected by ultrasonography.

Hiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki

|Nov 01, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.

Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama

|Jun 16, 2020
Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.

Hiromi Aoi, Ming Lei, Takeshi Mizuguchi

Pageof 2