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Keywords: Mouse models
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Journal Articles
Mol Syndromol (2021) 12 (4): 202–218.
Published Online: 20 May 2021
... to study DS and present ongoing in vivo and in vitro approaches driving future discovery. Mouse models have been of vital importance to study and understand many aspects of DS. Nevertheless, significant differences exist at the molecular and systems levels between rodents and primates. Elizabeth Fisher...
Journal Articles
Mol Syndromol (2019) 10 (1-2): 58–73.
Published Online: 13 July 2018
...Kevin K.L. Lee; Philip Stanier; Erwin Pauws Craniosynostosis is a common craniofacial birth defect. This review focusses on the advances that have been achieved through studying the pathogenesis of craniosynostosis using mouse models. Classic methods of gene targeting which generate individual gene...
Journal Articles
Mol Syndromol (2014) 5 (3-4): 180–186.
Published Online: 27 May 2014
.... The generation of mouse models deficient in CoQ is important to further clarify the cellular function of CoQ and to unravel the complexity in the pathophysiological consequences of CoQ deficiency. This review summarizes the current knowledge on mouse models of primary CoQ deficiency. Although studies...