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Ilaria Parenti

Showing results (1-10 of 40) with videos related to

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Frontiers in Neuroscience|November 22, 2021
Cornelia de Lange Syndrome as Paradigm of ChromatinopathiesIlaria Parenti, Frank J Kaiser
Trends in Neurosciences|June 9, 2020
Neurodevelopmental Disorders: From Genetics to Functional PathwaysIlaria Parenti, Luis G Rabaneda, Hanna Schoen, et al.
Frontiers in Genetics|July 31, 2018
Mosaic Intronic <i>NIPBL</i> Variant in a Family With Cornelia de Lange SyndromeNatalia Krawczynska, Alina Kuzniacka, Jolanta Wierzba, et al.
Journal of Human Genetics|October 3, 2014
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathyJacopo Azzollini, Davide Rovina, Cristina Gervasini, et al.
European Journal of Medical Genetics|January 15, 2013
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotypeCristina Gervasini, Ilaria Parenti, Chiara Picinelli, et al.
Clinical Genetics|November 14, 2019
Chromatinopathies: A focus on Cornelia de Lange syndromeLaura Avagliano, Ilaria Parenti, Paolo Grazioli, et al.
Epigenetics|April 24, 2014
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controlsIlaria Parenti, Davide Rovina, Maura Masciadri, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrumCristina Gervasini, Silvia Russo, Anna Cereda, et al.
European Journal of Medical Genetics|November 21, 2017
Novel mosaic variants in two patients with Cornelia de Lange syndromeJelena Pozojevic, Ilaria Parenti, Luitgard Graul-Neumann, et al.
Human Mutation|September 9, 2014
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnosticsDiana Braunholz, Carolin Obieglo, Ilaria Parenti, et al.
Pageof 4

Showing results (1-10 of 40) with videos related to

Sort By:
Pageof 4
Frontiers in Neuroscience|November 22, 2021
Cornelia de Lange Syndrome as Paradigm of ChromatinopathiesIlaria Parenti, Frank J Kaiser
Trends in Neurosciences|June 9, 2020
Neurodevelopmental Disorders: From Genetics to Functional PathwaysIlaria Parenti, Luis G Rabaneda, Hanna Schoen, et al.
Frontiers in Genetics|July 31, 2018
Mosaic Intronic <i>NIPBL</i> Variant in a Family With Cornelia de Lange SyndromeNatalia Krawczynska, Alina Kuzniacka, Jolanta Wierzba, et al.
Journal of Human Genetics|October 3, 2014
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathyJacopo Azzollini, Davide Rovina, Cristina Gervasini, et al.
European Journal of Medical Genetics|January 15, 2013
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotypeCristina Gervasini, Ilaria Parenti, Chiara Picinelli, et al.
Clinical Genetics|November 14, 2019
Chromatinopathies: A focus on Cornelia de Lange syndromeLaura Avagliano, Ilaria Parenti, Paolo Grazioli, et al.
Epigenetics|April 24, 2014
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controlsIlaria Parenti, Davide Rovina, Maura Masciadri, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrumCristina Gervasini, Silvia Russo, Anna Cereda, et al.
European Journal of Medical Genetics|November 21, 2017
Novel mosaic variants in two patients with Cornelia de Lange syndromeJelena Pozojevic, Ilaria Parenti, Luitgard Graul-Neumann, et al.
Human Mutation|September 9, 2014
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnosticsDiana Braunholz, Carolin Obieglo, Ilaria Parenti, et al.
Pageof 4