List of works by Francesco Brancati

A novel mutation in CDH11 , encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

scientific article published on 08 September 2018

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

scientific article published on 11 June 2018

Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders

scientific article published on 03 August 2020

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

scientific article published on 10 December 2019

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency

scientific article published on 20 January 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

scientific article published on 01 December 2019

Measles skin rash: infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis

scientific article published on 08 October 2020

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience

scientific article published on 12 November 2019

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

scientific article

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI

scientific article published on 18 November 2018

Tremor is a major feature of 9p13 deletion syndrome

scientific article published on 08 September 2020

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