U. Kornak

Growth defect, reduced mineralization and tibial bowing in a mouse model for neurofibromatosis type 1 (2007)

Kuhnisch, J., Kolanczyk, M., Stumpp, S., Kossler, N., Manjubala, I., Sporle, R., ...

Multiple roles for neurofibromin in skeletal development and growth (2007)

Kolanczyk, M., Kossler, N., Kuhnisch, J., Lavitas, L., Stricker, S., Wilkening, U., ...

Lysosomal storage disease upon disruption of the neuronal chloride transport protein CIC-6 (2006)

Poët, M., Kornak, U., Schweizer, M., Zdebik, A. A., Scheel, O., Hoelter, S., ...

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis (2003)

Borthwick,K. J., Kandemir,N., Topaloglu,R., Kornak,U., Bakkaloglu,A., Yordam,N., ...

The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel syndrome or marble brain disease....

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis (2003)

Borthwick, K. J., Kandemir, N., Topaloglu, R., Kornak, U., Bakkaloglu, A., Yordam, N., ...

The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel syndrome or marble brain disease....

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis

Borthwick, K, Kandemir, N, Topaloglu, R, Kornak, U, Bakkaloglu, A, Yordam, N, ...

We report the molecular genetic investigation of two consanguineous kindreds where osteopetrosis and distal RTA (dRTA) were both manifest. One kindred harbours a novel homozygous frameshift...