Kiyoshi Imaizumi

发表论文 149 篇 · 总被引 3678 次 · h-index 28

代表论文

Haploinsufficiency of NSD1 causes Sotos syndrome (2002 · Nature Genetics · 被引 660)
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR (1999 · Human Genetics · 被引 226)
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. (1997 · PubMed · 被引 145)
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations (1999 · Annals of Neurology · 被引 132)
Another critical region for deletion of 22q11: A study of 100 patients (1997 · American Journal of Medical Genetics · 被引 74)
Paternal UPD14 is responsible for a distinctive malformation complex (2002 · American Journal of Medical Genetics · 被引 65)