Dobrawa Napierala

Mutations in <i>FKBP10</i> cause recessive osteogenesis imperfecta and bruck syndrome

Brian Kelley, Fransiska Malfait, Luisa Bonafé et al. · Journal of Bone and Mineral Research · 2010 · 185 citations · Full text

Mutations in <i>SERPINF1</i> cause osteogenesis imperfecta type VI

Erica P. Homan, Frank Rauch, Ingo Grafe et al. · Journal of Bone and Mineral Research · 2011 · 185 citations · Full text

Bone Fragility, Developmental Biology, Oi Type Vi +14

Mosaicism in Tuberous Sclerosis as a Potential Cause of the Failure of Molecular Diagnosis

J. Kwiatkowska, J Wigowska-Sowińska, Dobrawa Napierala et al. · New England Journal of Medicine · 1999 · 123 citations · Full text

Molecular Diagnosis, Genetics, Important Hamartomas +20

Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome

Dobrawa Napierala, Kathy Sam, Roy Morello et al. · Human Molecular Genetics · 2008 · 102 citations · Full text

Sclerostin, Genetics, Anatomy +18

Runx2 contributes to murine <i>Col10a1</i> gene regulation through direct interaction with its cis-enhancer

Feifei Li, Yaojuan Lu, Ming Ding et al. · Journal of Bone and Mineral Research · 2011 · 73 citations · Full text

Chromatin, Transcriptional Regulation, 150-Bp Promoter +15