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Orsetta Zuffardi

Showing results (141-150 of 222) with videos related to

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European Journal of Human Genetics : EJHG|October 16, 2008
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearanceJill Clayton-Smith, Sarah Walters, Emma Hobson, et al.
Frontiers in Physiology|April 2, 2019
<i>PIEZO1</i> Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood CellsImmacolata Andolfo, Gianluca De Rosa, Edoardo Errichiello, et al.
American Journal of Cancer Research|June 25, 2014
Genome-wide copy number analysis in pediatric glioblastoma multiformeLaura Giunti, Marilena Pantaleo, Iacopo Sardi, et al.
Journal of Medical Genetics|January 31, 2018
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)Nehir Kurtas, Filippo Arrigoni, Edoardo Errichiello, et al.
European Journal of Medical Genetics|September 2, 2008
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described casesSergio Tempesta, Danila Sollima, Sara Ghezzo, et al.
European Journal of Medical Genetics|February 21, 2012
Unexpected results in the constitution of small supernumerary marker chromosomesAnnalisa Vetro, Emmanouil Manolakos, Michael B Petersen, et al.
Pediatric Blood & Cancer|December 21, 2011
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemiaPaola De Filippi, Marco Zecca, Francesca Novara, et al.
Orphanet Journal of Rare Diseases|April 13, 2017
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task forceBerardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, et al.
International Journal of Molecular Medicine|February 3, 2007
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomaliesEmanuele Panza, Giorgio Gimelli, Mario Passalacqua, et al.
Journal of Child Neurology|July 19, 2012
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent featuresDavide Tonduti, Adeline Vanderver, Angela Berardinelli, et al.
Pageof 23

Showing results (141-150 of 222) with videos related to

Sort By:
Pageof 23
European Journal of Human Genetics : EJHG|October 16, 2008
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearanceJill Clayton-Smith, Sarah Walters, Emma Hobson, et al.
Frontiers in Physiology|April 2, 2019
<i>PIEZO1</i> Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood CellsImmacolata Andolfo, Gianluca De Rosa, Edoardo Errichiello, et al.
American Journal of Cancer Research|June 25, 2014
Genome-wide copy number analysis in pediatric glioblastoma multiformeLaura Giunti, Marilena Pantaleo, Iacopo Sardi, et al.
Journal of Medical Genetics|January 31, 2018
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)Nehir Kurtas, Filippo Arrigoni, Edoardo Errichiello, et al.
European Journal of Medical Genetics|September 2, 2008
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described casesSergio Tempesta, Danila Sollima, Sara Ghezzo, et al.
European Journal of Medical Genetics|February 21, 2012
Unexpected results in the constitution of small supernumerary marker chromosomesAnnalisa Vetro, Emmanouil Manolakos, Michael B Petersen, et al.
Pediatric Blood & Cancer|December 21, 2011
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemiaPaola De Filippi, Marco Zecca, Francesca Novara, et al.
Orphanet Journal of Rare Diseases|April 13, 2017
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task forceBerardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, et al.
International Journal of Molecular Medicine|February 3, 2007
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomaliesEmanuele Panza, Giorgio Gimelli, Mario Passalacqua, et al.
Journal of Child Neurology|July 19, 2012
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent featuresDavide Tonduti, Adeline Vanderver, Angela Berardinelli, et al.
Pageof 23