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Maria Iascone

Showing results (131-140 of 178) with videos related to

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Clinical Epigenetics|August 12, 2021
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profileAndrea Ciolfi, Aidin Foroutan, Alessandro Capuano, et al.
Genes|November 24, 2022
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying <i>NSD1</i> VariantsMarco Ferilli, Andrea Ciolfi, Lucia Pedace, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2024
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephalyYue Huang, Kristy L Jay, Alden Yen-Wen Huang, et al.
American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2022
DNA methylation episignature in Gabriele-de Vries syndromeFlorian Cherik, Jack Reilly, Jennifer Kerkhof, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 11, 2024
The spectrum of heart defects in the <i>TRAF7</i>-related multiple congenital anomalies-intellectual disability syndromeElise Pisan, Chiara De Luca, Francesco Brancati, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
American Journal of Human Genetics|March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.
Nature Communications|November 11, 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafishGiulia Fasano, Valentina Muto, Francesca Clementina Radio, et al.
Pageof 18

Showing results (131-140 of 178) with videos related to

Sort By:
Pageof 18
Clinical Epigenetics|August 12, 2021
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profileAndrea Ciolfi, Aidin Foroutan, Alessandro Capuano, et al.
Genes|November 24, 2022
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying <i>NSD1</i> VariantsMarco Ferilli, Andrea Ciolfi, Lucia Pedace, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2024
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephalyYue Huang, Kristy L Jay, Alden Yen-Wen Huang, et al.
American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2022
DNA methylation episignature in Gabriele-de Vries syndromeFlorian Cherik, Jack Reilly, Jennifer Kerkhof, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 11, 2024
The spectrum of heart defects in the <i>TRAF7</i>-related multiple congenital anomalies-intellectual disability syndromeElise Pisan, Chiara De Luca, Francesco Brancati, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
American Journal of Human Genetics|March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.
Nature Communications|November 11, 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafishGiulia Fasano, Valentina Muto, Francesca Clementina Radio, et al.
Pageof 18