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Daniela Orteschi

Showing results (1-10 of 48) with videos related to

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American Journal of Medical Genetics. Part A|December 25, 2009
Phenotypic map in ring 14 syndromeMarcella Zollino, Daniela Orteschi, Giovanni Neri
American Journal of Medical Genetics. Part A|October 16, 2013
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large familyGiuseppe Marangi, Daniela Orteschi, Valentina Milano, et al.
European Journal of Medical Genetics|June 29, 2015
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotypeEmanuela Ponzi, Alessia Asaro, Daniela Orteschi, et al.
European Journal of Human Genetics : EJHG|December 2, 2010
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndromeMarcella Zollino, Fiorella Gurrieri, Daniela Orteschi, et al.
American Journal of Medical Genetics. Part A|September 19, 2012
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome?Emanuela Lucci-Cordisco, Salvatore Scommegna, Daniela Orteschi, et al.
American Journal of Medical Genetics. Part A|August 9, 2008
Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotypeGiuseppe Marangi, Vincenzo Leuzzi, Daniela Orteschi, et al.
Journal of Medical Genetics|October 22, 2009
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locusMarcella Zollino, Daniela Orteschi, Giuseppe Marangi, et al.
European Journal of Human Genetics : EJHG|May 3, 2012
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotypeGiuseppe Marangi, Vincenzo Leuzzi, Filippo Manti, et al.
American Journal of Medical Genetics. Part A|March 16, 2012
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletionGiuseppe Marangi, Daniela Orteschi, Federico Vigevano, et al.
Frontiers in Neuroscience|November 3, 2017
Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as ExamplesMarcella Zollino, Serena Lattante, Daniela Orteschi, et al.
Pageof 5

Showing results (1-10 of 48) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|December 25, 2009
Phenotypic map in ring 14 syndromeMarcella Zollino, Daniela Orteschi, Giovanni Neri
American Journal of Medical Genetics. Part A|October 16, 2013
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large familyGiuseppe Marangi, Daniela Orteschi, Valentina Milano, et al.
European Journal of Medical Genetics|June 29, 2015
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotypeEmanuela Ponzi, Alessia Asaro, Daniela Orteschi, et al.
European Journal of Human Genetics : EJHG|December 2, 2010
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndromeMarcella Zollino, Fiorella Gurrieri, Daniela Orteschi, et al.
American Journal of Medical Genetics. Part A|September 19, 2012
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome?Emanuela Lucci-Cordisco, Salvatore Scommegna, Daniela Orteschi, et al.
American Journal of Medical Genetics. Part A|August 9, 2008
Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotypeGiuseppe Marangi, Vincenzo Leuzzi, Daniela Orteschi, et al.
Journal of Medical Genetics|October 22, 2009
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locusMarcella Zollino, Daniela Orteschi, Giuseppe Marangi, et al.
European Journal of Human Genetics : EJHG|May 3, 2012
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotypeGiuseppe Marangi, Vincenzo Leuzzi, Filippo Manti, et al.
American Journal of Medical Genetics. Part A|March 16, 2012
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletionGiuseppe Marangi, Daniela Orteschi, Federico Vigevano, et al.
Frontiers in Neuroscience|November 3, 2017
Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as ExamplesMarcella Zollino, Serena Lattante, Daniela Orteschi, et al.
Pageof 5