Yoshio Makita

8PUBLICATIONS
8CO-AUTHORS
Adolescent healthCancer geneticsDevelopmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Child language acquisition
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (8)

|Nov 29, 2025
Co-Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha-Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1-q24.3.

Hideki Tamaru, Yuki Sasaki, Takamasa Miyoshi

|Dec 05, 2024
High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics.

Hiroki Tanabe, Yasuyuki Koshizuka, Kazuyuki Tanaka

|Dec 02, 2024
Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.

Erika Nakajima, Yuko Yokohama, Saori Sugiyama

|Mar 29, 2024
Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability.

Hiroki Tanabe, Masami Ijiri, Kenji Takahashi

|Jun 06, 2023
A novel HECW2 variant in an infant with congenital long QT syndrome.

Rina Imanishi, Kouichi Nakau, Sorachi Shimada

|Feb 01, 2023
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.

Satomi Okano, Yoshio Makita, Akie Miyamoto

Pageof 2

Frequent Collaborators

3 joint publications

Tadashi Kaname

2 joint publications

Satoru Takahashi

2 joint publications

Hiroki Tanabe

1 joint publications

Satomi Okano