J Zlotogora

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

D J Prockop, I. Kaitila, A. Latos-Bieleńska, 1999, American journal of human genetics.

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

A Chakravarti, A. Chakravarti, M. Carrasquillo, 1997, Human molecular genetics.

Can we rely on the family history?

J Zlotogora, S Barges, B Bisharat, 1998, American journal of medical genetics.

Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis.

J. Zlotogora, R. Knowlton, D. Wenger, 1993, American journal of human genetics.