List of works - Tony Roscioli - Paulina

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List of works by Tony Roscioli

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Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

scientific article

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

scientific article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

scientific article

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

scientific article

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

scientific article

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

scientific journal article

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

scientific article

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

scientific article published on 17 September 2018