Fabian Eberle

Newborn Hearing Screening — A Silent Revolution

The molecular basis of human retinal and vitreoretinal diseases

Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

Hypophosphatasia and the Role of Alkaline Phosphatase in Skeletal Mineralization*

Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia

Intracellular Retention and Degradation of Tissue-Nonspecific Alkaline Phosphatase with a Gly317→Asp Substitution Associated with Lethal Hypophosphatasia

Hypophosphatasia and the Extracellular Metabolism of Inorganic Pyrophosphate: Clinical and Laboratory Aspects: Part I

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia

Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

The role of alkaline phosphatase in mineralization

Birth and Death of Bone Cells: Basic Regulatory Mechanisms and Implications for the Pathogenesis and Treatment of Osteoporosis*

Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3

Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

Vascular Calcification

Possible interference between tissue-non-specific alkaline phosphatase with an Arg54→Cys substitution and a counterpart with an Asp277→Ala substitution found in a compound heterozygote associated with severe hypophosphatasia

Adult hypophosphatasia without apparent skeletal disease: “odontohypophosphatasia“ in four heterozygote members of a family