H Ohashi

PEBP2αA/CBFA1 mutations in Japanese cleidocranial dysplasia patients

Yuwen Zhang, Natsuo Yasui, Naoki Kakazu et al. · Gene · 2000 · 55 citations

Genetic Disorder, Genetics, Craniofacial Development +4

<i>CANT1</i> mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

Tatsuya Furuichi, Jin Dai, T.-J. Cho et al. · Journal of Medical Genetics · 2010 · 48 citations

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Zheng Wang, Aritoshi Iida, Noriko Miyake et al. · PLoS ONE · 2016 · 48 citations · Full text

Identification of biallelic <i>LRRK1</i> mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

Aritoshi Iida, Weirong Xing, M. Docx et al. · Journal of Medical Genetics · 2016 · 46 citations · Full text

<i>GPC3</i> mutations in seven patients with Simpson–Golabi–Behmel syndrome

Satoru Sakazume, Nobuhiko Okamoto, Toshiyuki Yamamoto et al. · American Journal of Medical Genetics Part A · 2007 · 37 citations