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Francesca Pantaleoni

Showing results (1-10 of 49) with videos related to

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Clinical Genetics|April 5, 2017
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiencyMaria Lisa Dentici, Sabina Barresi, Marcello Niceta, et al.
American Journal of Medical Genetics. Part A|May 9, 2017
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphismMaria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, et al.
Blood|April 4, 2007
Enhanced ability of dendritic cells to stimulate innate and adaptive immunity on short-term incubation with zoledronic acidFrancesca Fiore, Barbara Castella, Barbara Nuschak, et al.
Proteins|December 21, 2006
Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2Gianfranco Bocchinfuso, Lorenzo Stella, Simone Martinelli, et al.
Advances in Medical Sciences|September 29, 2017
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencingAlireza Tafazoli, Peyman Eshraghi, Francesca Pantaleoni, et al.
Genes|July 2, 2021
Co-Occurring Heterozygous <i>CNOT3</i> and <i>SMAD6</i> Truncating Variants: Unusual Presentation and Refinement of the IDDSADF PhenotypeManuela Priolo, Francesca Clementina Radio, Simone Pizzi, et al.
European Journal of Medical Genetics|September 7, 2018
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerationsMarcello Niceta, Sabina Barresi, Francesca Pantaleoni, et al.
Human Molecular Genetics|November 28, 2018
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signalingMarialetizia Motta, Miray Fidan, Emanuele Bellacchio, et al.
Journal of Immunology (Baltimore, Md. : 1950)|July 15, 2011
Immune modulation by zoledronic acid in human myeloma: an advantageous cross-talk between Vγ9Vδ2 T cells, αβ CD8+ T cells, regulatory T cells, and dendritic cellsBarbara Castella, Chiara Riganti, Francesca Fiore, et al.
Gene|July 13, 2017
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndromeMaria Lisa Dentici, Sabina Barresi, Marta Nardella, et al.
Pageof 5

Showing results (1-10 of 49) with videos related to

Sort By:
Pageof 5
Clinical Genetics|April 5, 2017
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiencyMaria Lisa Dentici, Sabina Barresi, Marcello Niceta, et al.
American Journal of Medical Genetics. Part A|May 9, 2017
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphismMaria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, et al.
Blood|April 4, 2007
Enhanced ability of dendritic cells to stimulate innate and adaptive immunity on short-term incubation with zoledronic acidFrancesca Fiore, Barbara Castella, Barbara Nuschak, et al.
Proteins|December 21, 2006
Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2Gianfranco Bocchinfuso, Lorenzo Stella, Simone Martinelli, et al.
Advances in Medical Sciences|September 29, 2017
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencingAlireza Tafazoli, Peyman Eshraghi, Francesca Pantaleoni, et al.
Genes|July 2, 2021
Co-Occurring Heterozygous <i>CNOT3</i> and <i>SMAD6</i> Truncating Variants: Unusual Presentation and Refinement of the IDDSADF PhenotypeManuela Priolo, Francesca Clementina Radio, Simone Pizzi, et al.
European Journal of Medical Genetics|September 7, 2018
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerationsMarcello Niceta, Sabina Barresi, Francesca Pantaleoni, et al.
Human Molecular Genetics|November 28, 2018
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signalingMarialetizia Motta, Miray Fidan, Emanuele Bellacchio, et al.
Journal of Immunology (Baltimore, Md. : 1950)|July 15, 2011
Immune modulation by zoledronic acid in human myeloma: an advantageous cross-talk between Vγ9Vδ2 T cells, αβ CD8+ T cells, regulatory T cells, and dendritic cellsBarbara Castella, Chiara Riganti, Francesca Fiore, et al.
Gene|July 13, 2017
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndromeMaria Lisa Dentici, Sabina Barresi, Marta Nardella, et al.
Pageof 5