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List of works by Uwe Kornak

Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation

scientific article published on 02 March 2020

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals

scientific article published in April 2014

Clinical phenotype and relevance of LRP5 and LRP6 variants in patients with early-onset osteoporosis (EOOP)

scientific article published on 29 October 2020

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

scientific article published on 27 February 2018

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency

scientific article published on 05 December 2019

Impaired gastric acidification negatively affects calcium homeostasis and bone mass.

scientific article published in June 2009

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

scientific article published on 21 March 2018

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

scientific article published on 24 October 2014

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

scientific article published in 2024

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