H. Tonoki

Cause of sudden, unexpected death of Prader–Willi syndrome patients with or without growth hormone treatment

Toshiro Nagai, Kyoichi Obata, H. Tonoki et al. · American Journal of Medical Genetics Part A · 2005 · 113 citations

Parental Imprinting of Human Chromosome Region 11p15.3-pter Involved in the Beckwith-Wiedemann Syndrome and Various Human Neoplasia

Marcel M. A. M. Mannens, J.M.N. Hoovers, E. Redeker et al. · European Journal of Human Genetics · 1994 · 108 citations

Beckwith-wiedemann Syndrome, Genetic Disorder, Genetics +8

The Wiedemann‐Beckwith syndrome: Pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity

Norio Niikawa, Satoshi Ishikiriyama, Satoshi Takahashi et al. · American Journal of Medical Genetics · 1986 · 96 citations

A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.

Tohru Sasaki, H. Tonoki, Hidenobu Soejima et al. · Journal of Medical Genetics · 1997 · 77 citations · Full text

Novel and recurrent <i>TRPV4</i> mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

Jin Dai, O.-H. Kim, T.-J. Cho et al. · Journal of Medical Genetics · 2010 · 70 citations · Full text