Bernhard H. F. Weber

发表

cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family.

H. Stöhr, A. Marquardt, K. White, 2000, Genomics.

Assessment of RS1 in X‐linked juvenile retinoschisis and sporadic senile retinoschisis

B. Lorenz, B. Weber, A. Gehrig, 1999, Clinical genetics.

Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q.

D. Hunt, A. Bird, M. Jay, 1998, American journal of human genetics.

Evaluation of DHPLC in the analysis of hemophilia A.

C. Müller, B. Weber, J. Oldenburg, 2001, Journal of biochemical and biophysical methods.

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

B. Lorenz, B. Jurklies, F. Holz, 2000, European Journal of Human Genetics.

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

H. Stöhr, A. Marquardt, A. Rivera, 1998, Human molecular genetics.

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

T. Dörk, Y. Shiloh, A. Rosenthal, 1999, Human molecular genetics.

The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa.

M. Hayden, O. Riess, A. Noerremoelle, 1992, American journal of human genetics.

DNA analysis of Huntington’s disease

G. Schluter, C. Zühlke, D. Morris-Rosendahl, 1999, Neurology.

Molecular evidence for non-penetrance in Best's disease.

D. Walker, B. Müller, B. Weber, 1994, Journal of medical genetics.

A BRCA2 germ‐line mutation in familial pancreatic carcinoma

K. White, K. Held, Bernhard Weber, 2001, International journal of cancer.

Sorsby fundus dystrophy mutation Timp3S156C affects the morphological and biochemical phenotype but not metalloproteinase homeostasis

H. Schrewe, B. Weber, G. Soboleva, 2003, Journal of cellular physiology.

VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies

A. Marquardt, K. White, B. Weber, 2000, Human mutation.

Membrane‐associated guanylate kinase proteins MPP4 and MPP5 associate with Veli3 at distinct intercellular junctions of the neurosensory retina

H. Stöhr, A. Reichenbach, L. Molday, 2005, The Journal of comparative neurology.

Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.

U. Felbor, A. Eriksson, E. Suvanto, 1997, American journal of human genetics.