Shinichi Nakashima

TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka et al. · PLoS ONE · 2014 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

Eiko Nagata, Hiroki Kano, Fumiko Kato et al. · Orphanet Journal of Rare Diseases · 2014 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Ureterocolic Fistula Secondary to Colonic Diverticulitis

Yuji Maeda, Shinichi Nakashima, T Misaki · International Journal of Urology · 1998 · 26 citations

Medicine, Surgery, Urology +7

Silver–Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C

Shinichi Nakashima, Fumiko Kato, Tomoki Kosho et al. · Journal of Human Genetics · 2014 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa et al. · Scientific Reports · 2018 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17