Renate Siebenhaar

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

A. Poustka, J. Mandel, W. Kress, 1996, Human molecular genetics.

A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1).

S. Klauck, A. Poustka, B. Korn, 1996, Genomics.