K. Abe

A molecular deletion study with Southern hybridization on typical Prader-Willi syndrome (PWS) patients with various chromosome abnormalities involving 15q11–12 and on an atypical PWS patient with apparently normal karyotype

N. Niikawa, S. Mizuno, S. Ishikiriyama, 1988, Japanese Journal of Human Genetics.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

J. Opitz, Y. Fukushima, N. Niikawa, 1988, American journal of medical genetics.

Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).

N. Niikawa, S. Chin, H. Tonoki, 1989, American journal of medical genetics.

Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.

Y. Fukushima, N. Niikawa, H. Tonoki, 1991, American journal of medical genetics.

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

R. Ophoff, B. Echenne, A. Elbaz, 1995, American journal of human genetics.

Complex chromosome rearrangements: Report of three patients

N. Niikawa, Yasushi Yamada, T. Kamei, 1988, Japanese Journal of Human Genetics.

Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome

N. Niikawa, T. Kajii, Kyohko Abe, 1989, Human Genetics.

Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs

Y. Fukushima, N. Niikawa, I. Kondo, 1991, Human Genetics.