T. Kondoh

No mutation in RAS‐MAPK pathway genes in 30 patients with Kabuki syndrome

Daisuke Sato, Y. Fukushima, N. Niikawa, 2008, American journal of medical genetics. Part A.

Unsuccessful Identification of Mutations in Genes Involving the RAS-MAPK Pathway among 30 Patients with Kabuki Syndrome

Daisuke Sato, Y. Fukushima, N. Niikawa, 2008 .

Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

N. Niikawa, E. Hatchwell, K. Yoshiura, 2004, Journal of Medical Genetics.

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions

N. Niikawa, T. Ogata, N. Matsumoto, 2003, Journal of medical genetics.

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

N. Niikawa, K. Yoshiura, N. Matsumoto, 2008, Journal of Medical Genetics.