Nina Horn

发表

X‐linked recessive Menkes disease: identification of partial gene deletions in affected males

Z. Tümer, N. Horn, L. Poulsen, 2002, Clinical genetics.

Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.

Z. Tümer, L. Møller, T. Cole, 2000, American journal of human genetics.

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

E. Shoubridge, D. Auer, K. Gerbitz, 2001, Neurology.

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.

Z. Tümer, J. Christodoulou, D. Danks, 1998, American journal of medical genetics.