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Emanuela Ponzi

Showing results (11-20 of 21) with videos related to

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Genes|December 23, 2023
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic FeaturesFrancesco Nicola Riviello, Alessia Daponte, Emanuela Ponzi, et al.
Human Molecular Genetics|November 11, 2021
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse modelMaria Lidia Mignogna, Romina Ficarella, Susanna Gelmini, et al.
Genes|July 2, 2021
Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12Angelo Cellamare, Nicoletta Coccaro, Maria Cristina Nuzzi, et al.
European Journal of Human Genetics : EJHG|February 26, 2015
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndromeConcetta Cafiero, Giuseppe Marangi, Daniela Orteschi, et al.
Clinical Genetics|November 25, 2020
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defectsMattia Gentile, Carlotta Ranieri, Daria C Loconte, et al.
Nature Communications|May 18, 2023
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3Giulia Cova, Juliane Glaser, Robert Schöpflin, et al.
Nature Communications|March 17, 2023
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3Giulia Cova, Juliane Glaser, Robert Schöpflin, et al.
Medicina (Kaunas, Lithuania)|December 24, 2021
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case ReportAlessio Danilo Inchingolo, Assunta Patano, Giovanni Coloccia, et al.
Genes|May 28, 2022
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the LiteratureMaria Paola Recalcati, Ilaria Catusi, Maria Garzo, 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.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Genes|December 23, 2023
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic FeaturesFrancesco Nicola Riviello, Alessia Daponte, Emanuela Ponzi, et al.
Human Molecular Genetics|November 11, 2021
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse modelMaria Lidia Mignogna, Romina Ficarella, Susanna Gelmini, et al.
Genes|July 2, 2021
Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12Angelo Cellamare, Nicoletta Coccaro, Maria Cristina Nuzzi, et al.
European Journal of Human Genetics : EJHG|February 26, 2015
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndromeConcetta Cafiero, Giuseppe Marangi, Daniela Orteschi, et al.
Clinical Genetics|November 25, 2020
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defectsMattia Gentile, Carlotta Ranieri, Daria C Loconte, et al.
Nature Communications|May 18, 2023
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3Giulia Cova, Juliane Glaser, Robert Schöpflin, et al.
Nature Communications|March 17, 2023
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3Giulia Cova, Juliane Glaser, Robert Schöpflin, et al.
Medicina (Kaunas, Lithuania)|December 24, 2021
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case ReportAlessio Danilo Inchingolo, Assunta Patano, Giovanni Coloccia, et al.
Genes|May 28, 2022
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the LiteratureMaria Paola Recalcati, Ilaria Catusi, Maria Garzo, 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.
Pageof 3