Tomoki Kosho

The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 1.8K citations · Full text

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 515 citations

Mendelian Disorder, Translational Biology, Disease Mechanism +6

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

Tomoki Kosho, Tomohiko Nakamura, Hiroshi Kawame et al. · American Journal of Medical Genetics Part A · 2006 · 198 citations

Down Syndrome, Neonatal Resuscitation, Neonatal Management +13

<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto et al. · American Journal of Medical Genetics Part A · 2013 · 174 citations · Full text

Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome

Tomoki Kosho, Koji Muroya, Toshiro Nagai et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 172 citations · Full text

Growth Patterns, Genetics, Pathology +18