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List of works by Tiffany Busa

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

scientific article published on 04 December 2021

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

scientific article

FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease

scientific article published on 28 June 2017

Germline AGO2 mutations impair RNA interference and human neurological development

scientific article published on 16 November 2020

Growth charts in Kabuki syndrome 1

scientific article published on 26 December 2019

Novel PTEN germline mutation in a family with mild phenotype: Difficulties in genetic counseling ⬇️

scientific article published on November 2, 2012

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies

scientific article published on 11 September 2019

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

scientific article published on 03 May 2019

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