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International Journal of Molecular Sciences|October 19, 2018
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin HamartomaAnnalisa Mencarelli, Paolo Prontera, Amedea Mencarelli, et al.American Journal of Medical Genetics. Part A|February 28, 2009
2q31.2q32.3 deletion syndrome: report of an adult patientPaolo Prontera, Laura Bernardini, Gabriela Stangoni, et al.American Journal of Medical Genetics. Part A|September 27, 2014
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephalyPaolo Prontera, Valentina Ottaviani, Daniela Toccaceli, et al.American Journal of Medical Genetics. Part A|April 6, 2011
Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locusPaolo Prontera, Daniela Rogaia, Cristina Sobacchi, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Deletion 2p15-16.1 syndrome: case report and reviewPaolo Prontera, Laura Bernardini, Gabriela Stangoni, et al.International Journal of Molecular Sciences|September 21, 2017
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the LiteraturePaolo Prontera, Daniela Rogaia, Amedea Mencarelli, et al.American Journal of Medical Genetics. Part A|June 18, 2016
A novel MED12 mutation: Evidence for a fourth phenotypePaolo Prontera, Valentina Ottaviani, Daniela Rogaia, et al.International Journal of Molecular Sciences|September 14, 2024
A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and MacrocephalyMiryam Rosa Stella Foti, Maria Giovanna Tedesco, Davide Colavito, et al.Neurogenetics|August 18, 2014
DPP6 gene disruption in a family with Gilles de la Tourette syndromePaolo Prontera, Valerio Napolioni, Valentina Ottaviani, et al.European Journal of Human Genetics : EJHG|April 3, 2019
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 genePaolo Prontera, Daniela Rogaia, Ester Sallicandro, et al.Pageof 2