Hidehito Inagaki
Fujita Health University
H-index: 33
Asia-Japan
Top articles of Hidehito Inagaki
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
A molecular investigation of a family with a trait of neonatal deaths from biochemical OTC deficiency identified a novel variant in the regulatory sequence of the OTC gene | Molecular Genetics and Metabolism | Yoko Nakajima Yuta Sudo Yasuaki Yasuda Rie Kawamura Hidehito Inagaki | 2024/4/1 |
Application and Prospects of Long Read Sequencers for Preimplantation Genetic Testing | Tasuku Mariya Yui Shichiri Yuri Murase Hidehito Inagaki Hiroki Kurahashi | 2024/1/4 | |
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly | American Journal of Medical Genetics Part A | Mamiko Yamada Seiji Mizuno Mie Inaba Tomoko Uehara Hidehito Inagaki | 2024/4/2 |
Clinical application of long‐read nanopore sequencing in a preimplantation genetic testing pre‐clinical workup to identify the junction for complex Xq chromosome rearrangement … | Prenatal Diagnosis | Tasuku Mariya Yui Shichiri Takeshi Sugimoto Rie Kawamura Syunsuke Miyai | 2023/3 |
Subjects and instructors | Academic Year 2023 | Kuniaki SAITO Shuichi MURAKAWA Koichi SETO Hisatsugu KOSHIMIZU Masato ABE | 2023 |
SEGA‐like circumscribed astrocytoma in a non‐NF1 patient, harboring molecular profile of GBM. A case report | Neuropathology | Seiji Yamada Motoki Tanikawa Yuko Matsushita Ryota Fujinami Hiroshi Yamada | 2023/11/2 |
Transport and Golgi organization 2 deficiency with a prominent elevation of C14: 1 during a metabolic crisis: A case report | JIMD reports | Katsuyuki Yokoi Yoko Nakajima Yoshihisa Takahashi Takashi Hamajima Go Tajima | 2023/1 |
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm | Human Genetics | Takeshi Sugimoto Hidehito Inagaki Tasuku Mariya Rie Kawamura Mariko Taniguchi-Ikeda | 2023/10 |
A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome | JSES international | Yusuke Kawano Atsuhito Seki Takashi Kuroiwa Atsushi Maeda Takuya Funahashi | 2023/7/1 |
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant | Human molecular genetics | Sarantuya Enkhjargal Kana Sugahara Behnoush Khaledian Miwako Nagasaka Hidehito Inagaki | 2023/4/15 |
Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex | Human Genome Variation | Yoshinari Muto Hitomi Sasaki Makoto Sumitomo Hidehito Inagaki Maki Kato | 2022/2/10 |
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases | Scientific reports | Kotaro Narita Hideki Muramatsu Satoshi Narumi Yuji Nakamura Yusuke Okuno | 2022/8/26 |
Familial cardiac septal defect due to a novel nine-base deletion in TBX20 | Pediatrics International | Hidenori Yamamoto Hidehito Inagaki Satoshi Hayano Hiroki Kurahashi Taichi Kato | 2022/1/1 |
A case of early onset adenocarcinoma associated with colorectal polyposis with an unknown germline mutation | Surgical Case Reports | Masahiro Zenitani Hidehito Inagaki Hiroki Kurahashi Takaharu Oue | 2022/8/25 |
Identification of a novel mutation in carboxyl ester lipase gene in a patient with MODY-like diabetes | The Tohoku Journal of Experimental Medicine | Tomomi Kondoh Yoko Nakajima Katsuyuki Yokoi Yuji Matsumoto Hidehito Inagaki | 2022 |
Characterization of the MG828507 lncRNA Located Upstream of the FLT1 Gene as an Etiology for Pre-Eclampsia | Journal of Clinical Medicine | Hikari Yoshizawa Haruki Nishizawa Hidehito Inagaki Keisuke Hitachi Akiko Ohwaki | 2022/8/7 |
Two Japanese patients with Noonan syndrome‐like disorder with loose anagen hair 2 | American Journal of Medical Genetics Part A | Kaori Maruwaka Yoko Nakajima Takaharu Yamada Taihei Tanaka Rika Kosaki | 2022/7 |
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report | JIMD reports | Katsuyuki Yokoi Yoko Nakajima Yuta Sudo Tasuku Mariya Rie Kawamura | 2022/11 |
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes | Journal of Human Genetics | Tasuku Mariya Takema Kato Takeshi Sugimoto Syunsuke Miyai Hidehito Inagaki | 2022/6 |
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant | Congenital Anomalies | Yui Shichiri Yoshimi Kato Hidehito Inagaki Takema Kato Naoko Ishihara | 2022/9 |
