A Japanese family with popliteal pterygium syndrome

por Katsube, Motoki, Yoshiura, Koh-ichiro, Kusumoto, Kenji
Publicado 2015

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion

por Ishikawa, Toshihisa, Toyoda, Yu, Yoshiura, Koh-ichiro, Niikawa, Norio
Publicado 2013

A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene

por Nakano, Motoi, Miwa, Nobutomo, Hirano, Akiyoshi, Yoshiura, Koh-ichiro, Niikawa, Norio
Publicado 2009

Agile parallel bioinformatics workflow management using Pwrake

por Mishima, Hiroyuki, Sasaki, Kensaku, Tanaka, Masahiro, Tatebe, Osamu, Yoshiura, Koh-ichiro
Publicado 2011

Correction: Autoinflammatory disease: clinical perspectives and therapeutic strategies

por Kawakami, Atsushi, Endo, Yushiro, Koga, Tomohiro, Yoshiura, Koh-Ichiro, Migita, Kiyoshi
Publicado 2022

Proto-oncogene mutations in middle ear cholesteatoma contribute to its pathogenesis

por Satoh, Chisei, Yoshiura, Koh-ichiro, Mishima, Hiroyuki, Yoshida, Haruo, Takahashi, Haruo, Kumai, Yoshihiko
Publicado 2023

Significance of genomic instability in breast cancer in atomic bomb survivors: analysis of microarray-comparative genomic hybridization

por Oikawa, Masahiro, Yoshiura, Koh-ichiro, Kondo, Hisayoshi, Miura, Shiro, Nagayasu, Takeshi, Nakashima, Masahiro
Publicado 2011

The Ruby UCSC API: accessing the UCSC genome database using Ruby

por Mishima, Hiroyuki, Aerts, Jan, Katayama, Toshiaki, Bonnal, Raoul J P, Yoshiura, Koh-ichiro
Publicado 2012

Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63

por Otsuki, Yuki, Ueda, Koichi, Satoh, Chisei, Maekawa, Ryuta, Yoshiura, Koh-ichiro, Iseki, Sachiko
Publicado 2016

Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome

por Dateki, Sumito, Kitajima, Tasuku, Kihara, Toshiharu, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki
Publicado 2018

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report

por Otsuki, Yuki, Ueda, Koichi, Nuri, Takashi, Satoh, Chisei, Maekawa, Ryuta, Yoshiura, Koh-ichiro
Publicado 2020

PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy

por Motoyama, Rie, Matsudaira, Takashi, Terada, Kiyohito, Usui, Naotaka, Yoshiura, Koh-ichiro, Takahashi, Yukitoshi
Publicado 2022

Sphenoethmoidal meningoencephalocele with variable hypopituitarism: A case report and review of literature

por Morishima, Sakura, Maeda, Miwako, Itonaga, Tomoyo, Sato-Kawano, Nanae, Yoshiura, Koh-ichiro, Ihara, Kenji
Publicado 2020

ABCC11/MRP8 Expression in the Gastrointestinal Tract and a Novel Role for Pepsinogen Secretion

por Matsumoto, Hirofumi, Tsuchiya, Tomoshi, Yoshiura, Koh-ichiro, Hayashi, Tomayoshi, Hidaka, Shigekazu, Nanashima, Atsushi, Nagayasu, Takeshi
Publicado 2014

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)

por Hamaguchi, Yo, Aoki, Mikihiro, Watanabe, Satoshi, Mishima, Hiroyuki, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Dateki, Sumito
Publicado 2019

Three cases of xanthinuria identified by gas chromatography/mass spectrometry‐based urine metabolomics

por Kuhara, Tomiko, Tetsuo, Masahiro, Ohse, Morimasa, Shirakawa, Toshihiko, Nakashima, Yumiko, Yoshiura, Koh‐ichiro, Tanaka, Nagaaki, Taya, Tadashi
Publicado 2023

Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation

por Shimizu, Kenji, Oba, Daiju, Nambu, Ryusuke, Tanaka, Manabu, Oguma, Eiji, Murayama, Kei, Ohtake, Akira, Yoshiura, Koh‐ichiro, Ohashi, Hirofumi
Publicado 2020

Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis

por Kurotaki, Naohiro, Tasaki, Shinya, Mishima, Hiroyuki, Ono, Shinji, Imamura, Akira, Kikuchi, Taeko, Nishida, Nao, Tokunaga, Katsushi, Yoshiura, Koh-ichiro, Ozawa, Hiroki
Publicado 2011

Rapid growth of mitotically active cellular fibroma of the ovary: a case report and review of the literature

por Matsuda, Katsuya, Tateishi, Seiko, Akazawa, Yuko, Kinoshita, Akira, Yoshida, Shiko, Morisaki, Sachiko, Fukushima, Ai, Matsuwaki, Takahiro, Yoshiura, Koh-Ichiro, Nakashima, Masahiro
Publicado 2016

Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease

por Morimoto, Yoshiro, Ono, Shinji, Imamura, Akira, Okazaki, Yuji, Kinoshita, Akira, Mishima, Hiroyuki, Nakane, Hideyuki, Ozawa, Hiroki, Yoshiura, Koh-ichiro, Kurotaki, Naohiro
Publicado 2017