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Orsetta Zuffardi

Showing results (161-170 of 222) with videos related to

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Plos One|June 22, 2012
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sElena Rossi, Roberto Giorda, Maria Clara Bonaglia, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|September 13, 2014
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophyJacopo C DiFrancesco, Francesca Novara, Orsetta Zuffardi, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 casesManuela Morleo, Tiziano Pramparo, Lucia Perone, et al.
Blood|September 9, 2011
Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletionMarco Lucioni, Francesca Novara, Giacomo Fiandrino, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Guidelines for molecular karyotyping in constitutional genetic diagnosisJoris Robert Vermeesch, Heike Fiegler, Nicole de Leeuw, et al.
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, 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.
American Journal of Human Genetics|June 12, 2002
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocationSabrina Giglio, Vladimiro Calvari, Giuliana Gregato, et al.
Experimental Hematology|December 8, 2009
Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone diseaseKatia Todoerti, Gina Lisignoli, Paola Storti, et al.
Genes|July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the LiteratureGabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Pageof 23

Showing results (161-170 of 222) with videos related to

Sort By:
Pageof 23
Plos One|June 22, 2012
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sElena Rossi, Roberto Giorda, Maria Clara Bonaglia, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|September 13, 2014
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophyJacopo C DiFrancesco, Francesca Novara, Orsetta Zuffardi, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 casesManuela Morleo, Tiziano Pramparo, Lucia Perone, et al.
Blood|September 9, 2011
Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletionMarco Lucioni, Francesca Novara, Giacomo Fiandrino, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Guidelines for molecular karyotyping in constitutional genetic diagnosisJoris Robert Vermeesch, Heike Fiegler, Nicole de Leeuw, et al.
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, 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.
American Journal of Human Genetics|June 12, 2002
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocationSabrina Giglio, Vladimiro Calvari, Giuliana Gregato, et al.
Experimental Hematology|December 8, 2009
Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone diseaseKatia Todoerti, Gina Lisignoli, Paola Storti, et al.
Genes|July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the LiteratureGabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Pageof 23