E. Puffenberger

Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.

T. Pollin, E. Streeten, P. Donnelly, 2008, Bone.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

C. Ober, R. Hegele, O. Suchowersky, 2013, American journal of human genetics.

Recessive TRAPPC 11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

C. Ober, R. Hegele, O. Suchowersky, 2013 .

PCR-based detection of polymorphic DdeI and KpnI sites in intron 5 of the adenylate kinase (AK1) gene.

C. Francomano, E. Puffenberger, 1991, Nucleic acids research.

Genetic heterogeneity in families with hereditary multiple exostoses.

G. Schellenberg, E. Wijsman, E. Puffenberger, 1993, American journal of human genetics.