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Silvia Frangella
Silvia Frangella
The Catholic University of America
Haploinsufficiency
Genetics
Biology
Exon
Intellectual disability
5
Papers
35
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Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
2020
Journal of Medical Genetics
Simona Amenta
Silvia Frangella
Giuseppe Marangi
Serena Lattante
Stefania Ricciardi
Paolo Niccolò Doronzio
Daniela Orteschi
Chiara Veredice
Ilaria Contaldo
Giuseppe Zampino
Mattia Gentile
Emanuela Scarano
Claudio Graziano
Marcella Zollino
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Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.
2019
Acta Dermato-venereologica
Giuseppe Marangi
Simone Garcovich
Gabriele Di Sante
Daniela Orteschi
Silvia Frangella
Franco Scaldaferri
Maurizio Genuardi
Ketty Peris
Fiorella Gurrieri
Marcella Zollino
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Citations (5)
A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B‐related disorders
2018
American Journal of Medical Genetics Part A
Giuseppe Marangi
Marilena C. Di Giacomo
Serena Lattante
Daniela Orteschi
Sara Patrizi
Paolo Niccolò Doronzio
Francesco Nicola Riviello
Alessandro Vaisfeld
Silvia Frangella
Marcella Zollino
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Citations (9)
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4
2017
European Journal of Medical Genetics
Maria Francesca Bedeschi
Giuseppe Marangi
Maria Rosaria Calvello
Stefania Ricciardi
Francesca Pia Chiara Leone
Marco Baccarin
Silvana Guerneri
Daniela Orteschi
Marina Murdolo
Serena Lattante
Silvia Frangella
Beth Keena
Margaret Harr
Elaine H. Zackai
Marcella Zollino
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Citations (13)
Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples
2017
Frontiers in Neuroscience
Marcella Zollino
Serena Lattante
Daniela Orteschi
Silvia Frangella
Paolo Niccolo’ Doronzio
Ilaria Contaldo
Eugenio Mercuri
Giuseppe Marangi
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Citations (8)
1