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Daniela Orteschi

Showing results (31-40 of 48) with videos related to

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Neurogenetics|November 26, 2008
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing lossAlessandra Terracciano, Carlo Casali, Gaetano S Grieco, et al.
Annals of Hematology|November 28, 2023
Acute erythroid leukemia with TP53 mutation and BCR/ABL1: challenges in classification and managementJohn Donald Marra, Filippo Frioni, Gessica Minnella, et al.
Journal of Medical Genetics|December 28, 2020
Adult phenotype in Koolen-de Vries/<i>KANSL1</i> haploinsufficiency syndromeSimona Amenta, Silvia Frangella, Giuseppe Marangi, et al.
Genes|December 24, 2021
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double DiagnosisElisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, et al.
Epilepsia|April 18, 2014
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorderMarcella Zollino, Daniela Orteschi, Mariken Ruiter, et al.
American Journal of Medical Genetics. Part A|January 16, 2016
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromesRoser Urreizti, Neus Roca-Ayats, Judith Trepat, et al.
Plos One|March 9, 2013
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo studyAnnunziato Mangiola, Nathalie Saulnier, Pasquale De Bonis, et al.
Cancer Immunology, Immunotherapy : CII|June 9, 2019
Pembrolizumab as first-line treatment for metastatic uveal melanomaErnesto Rossi, Monica Maria Pagliara, Daniela Orteschi, 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.
European Journal of Medical Genetics|August 16, 2017
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4Maria Francesca Bedeschi, Giuseppe Marangi, Maria Rosaria Calvello, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Neurogenetics|November 26, 2008
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing lossAlessandra Terracciano, Carlo Casali, Gaetano S Grieco, et al.
Annals of Hematology|November 28, 2023
Acute erythroid leukemia with TP53 mutation and BCR/ABL1: challenges in classification and managementJohn Donald Marra, Filippo Frioni, Gessica Minnella, et al.
Journal of Medical Genetics|December 28, 2020
Adult phenotype in Koolen-de Vries/<i>KANSL1</i> haploinsufficiency syndromeSimona Amenta, Silvia Frangella, Giuseppe Marangi, et al.
Genes|December 24, 2021
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double DiagnosisElisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, et al.
Epilepsia|April 18, 2014
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorderMarcella Zollino, Daniela Orteschi, Mariken Ruiter, et al.
American Journal of Medical Genetics. Part A|January 16, 2016
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromesRoser Urreizti, Neus Roca-Ayats, Judith Trepat, et al.
Plos One|March 9, 2013
Gene expression profile of glioblastoma peritumoral tissue: an ex vivo studyAnnunziato Mangiola, Nathalie Saulnier, Pasquale De Bonis, et al.
Cancer Immunology, Immunotherapy : CII|June 9, 2019
Pembrolizumab as first-line treatment for metastatic uveal melanomaErnesto Rossi, Monica Maria Pagliara, Daniela Orteschi, 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.
European Journal of Medical Genetics|August 16, 2017
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4Maria Francesca Bedeschi, Giuseppe Marangi, Maria Rosaria Calvello, et al.
Pageof 5