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List of works by Christine R Isabella

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

scientific article

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

scientific article published on 19 June 2015

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

scientific article published on 21 October 2015

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

scientific article

Stereoelectronic Effects Impact Glycan Recognition

scientific article published on 24 January 2020

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