Presentation
Scientific Publications
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2022Journal (source)J Med Genet.Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
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2019Journal (source)Biol. Cell
Cilia in hereditary cerebral anomalies.
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2018Journal (source)Am J Med Genet A
Loss of function IFT27 variants associated with an unclassified lethal fetal ...
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2018Journal (source)Birth Defects Res
A neuropathological study of novel RTTN gene mutations causing a familial mic...