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Elena Manara

Showing results (21-30 of 45) with videos related to

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Neurogenetics|April 20, 2020
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorderPınar Gelener, Mariasavina Severino, Sevda Diker, et al.
Oncotarget|October 16, 2013
DHH-RHEBL1 fusion transcript: a novel recurrent feature in the new landscape of pediatric CBFA2T3-GLIS2-positive acute myeloid leukemiaRiccardo Masetti, Marco Togni, Annalisa Astolfi, et al.
Journal of Clinical Medicine|October 27, 2020
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular MalformationsStefano Paolacci, Raul Ettore Mattassi, Giuseppe Marceddu, et al.
British Journal of Haematology|March 29, 2014
Whole transcriptome sequencing of a paediatric case of de novo acute myeloid leukaemia with del(5q) reveals RUNX1-USP42 and PRDM16-SKI fusion transcriptsRiccardo Masetti, Marco Togni, Annalisa Astolfi, et al.
Applied Immunohistochemistry & Molecular Morphology : AIMM|September 12, 2022
Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot FamilyMahmut Cerkez Ergoren, Nese Akcan, Elena Manara, et al.
Life (Basel, Switzerland)|October 20, 2020
Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation SequencingRossella Cannarella, Vincenza Precone, Giulia Guerri, et al.
Human Molecular Genetics|September 6, 2018
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptorsValerio Marino, Giuditta Dal Cortivo, Elisa Oppici, et al.
Molecular Genetics & Genomic Medicine|June 28, 2020
Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedemaSylvain Mukenge, Sawan K Jha, Marco Catena, et al.
Blood|May 26, 2012
Sox4 cooperates with CREB in myeloid transformationSalemiz Sandoval, Christina Kraus, Er-Chieh Cho, et al.
Journal of Biotechnology|December 30, 2019
Hydroxytyrosol: A natural compound with promising pharmacological activitiesMatteo Bertelli, Aysha Karim Kiani, Stefano Paolacci, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
Neurogenetics|April 20, 2020
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorderPınar Gelener, Mariasavina Severino, Sevda Diker, et al.
Oncotarget|October 16, 2013
DHH-RHEBL1 fusion transcript: a novel recurrent feature in the new landscape of pediatric CBFA2T3-GLIS2-positive acute myeloid leukemiaRiccardo Masetti, Marco Togni, Annalisa Astolfi, et al.
Journal of Clinical Medicine|October 27, 2020
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular MalformationsStefano Paolacci, Raul Ettore Mattassi, Giuseppe Marceddu, et al.
British Journal of Haematology|March 29, 2014
Whole transcriptome sequencing of a paediatric case of de novo acute myeloid leukaemia with del(5q) reveals RUNX1-USP42 and PRDM16-SKI fusion transcriptsRiccardo Masetti, Marco Togni, Annalisa Astolfi, et al.
Applied Immunohistochemistry & Molecular Morphology : AIMM|September 12, 2022
Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot FamilyMahmut Cerkez Ergoren, Nese Akcan, Elena Manara, et al.
Life (Basel, Switzerland)|October 20, 2020
Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation SequencingRossella Cannarella, Vincenza Precone, Giulia Guerri, et al.
Human Molecular Genetics|September 6, 2018
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptorsValerio Marino, Giuditta Dal Cortivo, Elisa Oppici, et al.
Molecular Genetics & Genomic Medicine|June 28, 2020
Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedemaSylvain Mukenge, Sawan K Jha, Marco Catena, et al.
Blood|May 26, 2012
Sox4 cooperates with CREB in myeloid transformationSalemiz Sandoval, Christina Kraus, Er-Chieh Cho, et al.
Journal of Biotechnology|December 30, 2019
Hydroxytyrosol: A natural compound with promising pharmacological activitiesMatteo Bertelli, Aysha Karim Kiani, Stefano Paolacci, et al.
Pageof 5