B. Halliger-Keller

发表

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

F. Muntoni, C. Müller, C. Sewry, 2001, Human molecular genetics.

The genetic defect of the alkaptonuric mouse (aku)

W. Kress, X. Montagutelli, B. Halliger-Keller, 1999, Mammalian Genome.

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population

W. Kress, S. Rost, T. Schneider, 2018, Front. Neurol..

Allelic heterogeneity of alkaptonuria in Central Europe

U. Felbor, E. Seemanová, W. Kress, 1999, European Journal of Human Genetics.

Bibliography of Ulrich Wolf

C. Tyler-Smith, P. Yen, K. Hirschhorn, 2001, Cytogenetic and Genome Research.

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

M. Swash, G. Bydder, F. Muntoni, 2005, Neurology.

CCM1 gene deletion identified by MLPA in cerebral cavernous malformation

O. Sürücü, U. Felbor, U. Sure, 2007, Neurosurgical Review.

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

Susan C. Brown, G. Bydder, E. Mercuri, 2002, Neurology.

No evidence for heterogeneity in oculopharyngeal muscular dystrophy.

H. Goebel, W. Kress, H. Porschke, 1998, Journal of medical genetics.

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

Hanns Lochmüller, W. Kress, B. Schoser, 2004, Brain : a journal of neurology.

Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses)

W. Kress, B. Halliger-Keller, C. Mueller, 2001, Cytogenetic and Genome Research.

A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B

C. Müller, M. Dabauvalle, Hanns Lochmüller, 2003, Journal of medical genetics.