Eva-Maria Ruf

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

A. Bakkaloğlu, A. Bagga, F. Hildebrandt, 2004, Journal of the American Society of Nephrology : JASN.

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

I. Glass, H. Hennies, F. Hildebrandt, 2003, Journal of medical genetics.

Bifidobacterium septicaemia in an extremely low-birthweight infant under probiotic therapy

A. Jenke, M. Heldmann, S. Wirth, 2011, Archives of Disease in Childhood: Fetal and Neonatal Edition.

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

H. Omran, R. Sudbrak, D. Milford, 2001, Nature Genetics.

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

C. Petit, D. Weil, C. Stratakis, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumors

Y. Nakamura, L. Schmidt, B. Teh, 2003 .

High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis

A. Verloes, V. Cormier-Daire, J. Carel, 2003, Journal of medical genetics.

High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis

P. Nurnberg, H. Hennies, Eva-Maria Ruf, 2003, Journal of medical genetics.