Publikationen von Uwe Kornak
Alle Typen
Zeitschriftenartikel (54)
41.
Zeitschriftenartikel
41, S. 1016 - 1021 (2009)
Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics 42.
Zeitschriftenartikel
24 (7), S. 1247 - 1262 (2009)
Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. Journal of Bone and Mineral Research 43.
Zeitschriftenartikel
18 (12), S. 2149 - 2165 (2009)
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics 44.
Zeitschriftenartikel
15, S. 674 - 681 (2009)
Impaired gastric acidification negatively affects calcium homeostasis and bone mass. Nature Medicine 45.
Zeitschriftenartikel
31 (6), S. 21 - 21 (2008)
Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin. BMC Medicine 46.
Zeitschriftenartikel
146A (8), S. 965 - 976 (2008)
Geroderma osteodysplasticum and wrinkly skin syndrome in 22 patients from Oman. American Journal of Medical Genetics Part A 47.
Zeitschriftenartikel
40 (1), S. 32 - 34 (2008)
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nature Genetics 48.
Zeitschriftenartikel
16 (8), S. 232 - 240 (2007)
Multiple roles for neurofibromin in skeletal development and growth. Human Molecular Genetics 49.
Zeitschriftenartikel
7 (1 - 2), S. 102 - 112 (2007)
Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2−/− mouse model. Gene Expression Patterns: A Section of Brain Research Devoted to Patterns of Expression of Genes during the Development, Maturity and Aging of the Central Nervous System 50.
Zeitschriftenartikel
13 (20), S. 2351 - 2359 (2004)
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Human Molecular Genetics 51.
Zeitschriftenartikel
23 (5), S. 471 - 476 (2004)
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Human Mutation 52.
Zeitschriftenartikel
73 (3), S. 447 - 474 (2003)
Genetic disorders of the skeleton: a developmental approach. American Journal of Human Genetics 53.
Zeitschriftenartikel
122 (1), S. 9a - 9a (2003)
The ClC-7 chloride channel as a regulator of bone resorption in mice and man. Journal of General Physiology 54.
Zeitschriftenartikel
40 (2), S. 115 - 121 (2003)
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. Journal of Medical Genetics Sonstige (1)
55.
Sonstige
Crowdfunded whole-genome sequencing of the celebrity cat Lil BUB identifies causal mutations for her osteopetrosis and polydactyly, bioRxiv (Preprint Server), (2019)
Manuskript (1)
56.
Manuskript
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise. Bioinformatics 2022, btac418 (2022)