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Maria Piccione

Showing results (61-70 of 74) with videos related to

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Human Genetics|February 27, 2019
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disordersGloria Negri, Pamela Magini, Donatella Milani, et al.
European Journal of Medical Genetics|November 14, 2016
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platformFrancesco Calì, Valeria Chiavetta, Giuseppa Ruggeri, et al.
Journal of Medical Genetics|March 15, 2020
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorderGabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF geneKarim Karimi, Merel O Mol, Sadegheh Haghshenas, et al.
Scientific Reports|July 30, 2021
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodAna Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, et al.
Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.
International Journal of Molecular Sciences|February 15, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related SyndromeAidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, et al.
Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.
Human Genetics|April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobilityMaria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
Human Mutation|March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethalityDorothea Bornholdt, Frank Oeffner, Arne König, et al.
Pageof 8

Showing results (61-70 of 74) with videos related to

Sort By:
Pageof 8
Human Genetics|February 27, 2019
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disordersGloria Negri, Pamela Magini, Donatella Milani, et al.
European Journal of Medical Genetics|November 14, 2016
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platformFrancesco Calì, Valeria Chiavetta, Giuseppa Ruggeri, et al.
Journal of Medical Genetics|March 15, 2020
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorderGabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF geneKarim Karimi, Merel O Mol, Sadegheh Haghshenas, et al.
Scientific Reports|July 30, 2021
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodAna Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, et al.
Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.
International Journal of Molecular Sciences|February 15, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related SyndromeAidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, et al.
Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.
Human Genetics|April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobilityMaria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
Human Mutation|March 25, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethalityDorothea Bornholdt, Frank Oeffner, Arne König, et al.
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