T. Sato

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene

M. Ohtsubo, S. Okada, M. Tsumura, 2008, Journal of Medical Genetics.

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

H. Cunliffe, M. Eccles, N. Cho, 2000, Human molecular genetics.

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

S. Leal, D. Ahram, M. Tayeh, 2009, American journal of human genetics.

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

S. Leal, D. Ahram, H. El-Shanti, 2009, American journal of human genetics.