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List of works by Joana Gonçalves Pontes Jacinto

A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis

scientific article published on 14 December 2020

A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome

scientific article published on 30 October 2020

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex

scientific article published on 02 November 2020

A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle

scientific article published on 02 October 2021

A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle

publication published on 19 November 2021

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

scientific article published on 07 September 2020

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