A Japanese family with popliteal pterygium syndrome

Autor Katsube, Motoki, Yoshiura, Koh-ichiro, Kusumoto, Kenji
Vydáno v Case Reports Plast Surg Hand Surg (2015)

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

Autor Ishikawa, Toshihisa, Toyoda, Yu, Yoshiura, Koh-ichiro, Niikawa, Norio
Vydáno 2013

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

Autor Hirano Akiyoshi, Miwa Nobutomo, Nakano Motoi, Yoshiura Koh-ichiro, Niikawa Norio
Vydáno 2009-08-01

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

Autor Nakano, Motoi, Miwa, Nobutomo, Hirano, Akiyoshi, Yoshiura, Koh-ichiro, Niikawa, Norio
Vydáno 2009

Agile parallel bioinformatics workflow management using Pwrake

Autor Mishima, Hiroyuki, Sasaki, Kensaku, Tanaka, Masahiro, Tatebe, Osamu, Yoshiura, Koh-ichiro
Vydáno 2011

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

Autor Mishima Hiroyuki, Aerts Jan, Katayama Toshiaki, Bonnal Raoul J P, Yoshiura Koh-ichiro
Vydáno 2012-09-01

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

Autor Oikawa, Masahiro, Yoshiura, Koh-ichiro, Kondo, Hisayoshi, Miura, Shiro, Nagayasu, Takeshi, Nakashima, Masahiro
Vydáno 2011

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

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

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

Autor Otsuki, Yuki, Ueda, Koichi, Satoh, Chisei, Maekawa, Ryuta, Yoshiura, Koh-ichiro, Iseki, Sachiko
Vydáno v Plast Reconstr Surg Glob Open (2016)

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

Autor Dateki, Sumito, Kitajima, Tasuku, Kihara, Toshiharu, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki
Vydáno v Hum Genome Var (2018)

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

Autor Otsuki, Yuki, Ueda, Koichi, Nuri, Takashi, Satoh, Chisei, Maekawa, Ryuta, Yoshiura, Koh-ichiro
Vydáno v Medicine (Baltimore) (2020)

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

Autor Morishima, Sakura, Maeda, Miwako, Itonaga, Tomoyo, Sato-Kawano, Nanae, Yoshiura, Koh-ichiro, Ihara, Kenji
Vydáno v Clin Pediatr Endocrinol (2020)

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

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

A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1

Autor Miura, Kiyonori, Miura, Shoko, Yoshiura, Koh-ichiro, Seminara, Stephanie, Hamaguchi, Daisuke, Niikawa, Norio, Masuzaki, Hideaki
Vydáno v Hum Reprod (2010)

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

Autor Hamaguchi, Yo, Aoki, Mikihiro, Watanabe, Satoshi, Mishima, Hiroyuki, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Dateki, Sumito
Vydáno v Hum Genome Var (2019)

SEARCH FOR GENOMIC ALTERATIONS IN MONOZYGOTIC TWINS DISCORDANT FOR CLEFT LIP AND/OR PALATE

Autor Kimani, Jane W., Yoshiura, Koh-ichiro, Shi, Min, Jugessur, Astanand, Moretti-Ferreira, Danilo, Christensen, Kaare, Murray, Jeffrey C.
Vydáno 2009

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

Autor Shimizu, Kenji, Oba, Daiju, Nambu, Ryusuke, Tanaka, Manabu, Oguma, Eiji, Murayama, Kei, Ohtake, Akira, Yoshiura, Koh‐ichiro, Ohashi, Hirofumi
Vydáno v Mol Genet Genomic Med (2020)

CHMP4B, a Novel Gene for Autosomal Dominant Cataracts Linked to Chromosome 20q

Autor Shiels, Alan , Bennett, Thomas M. , Knopf, Harry L. S. , Yamada, Koki , Yoshiura, Koh-ichiro , Niikawa, Norio , Shim, Soomin , Hanson, Phyllis I. 
Vydáno 2007

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

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

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

Autor Matsuda, Katsuya, Tateishi, Seiko, Akazawa, Yuko, Kinoshita, Akira, Yoshida, Shiko, Morisaki, Sachiko, Fukushima, Ai, Matsuwaki, Takahiro, Yoshiura, Koh-Ichiro, Nakashima, Masahiro
Vydáno v Diagn Pathol (2016)