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Claudio Carta

Showing results (11-20 of 39) with videos related to

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International Journal of Environmental Research and Public Health|November 26, 2020
Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to ConsiderRosaria Talarico, Diana Marinello, Sara Cannizzo, et al.
Clinical Endocrinology|January 13, 2006
Genotyping of an Italian papillary thyroid carcinoma cohort revealed high prevalence of BRAF mutations, absence of RAS mutations and allowed the detection of a new mutation of BRAF oncoprotein (BRAF(V599lns))Claudio Carta, Sonia Moretti, Lucia Passeri, et al.
Journal of Biomedical Semantics|June 19, 2026
FAIR in practice: minimum metadata schema for bioinformatics analytics by machinesDaphne Wijnbergen, Núria Queralt-Rosinach, Valérie Barbié, et al.
Genome Announcements|April 20, 2013
Draft Genome Sequence of Stenotrophomonas maltophilia Strain EPM1, Found in Association with a Culture of the Human Parasite Giardia duodenalisDavide Sassera, Iacopo Leardini, Laura Villa, et al.
Sleep Medicine|May 26, 2026
The Italian registry for narcolepsy and central disorders of hypersomnolence (ReN&IS): Baseline clinical and diagnostic findingsPaola Torreri, Giorgia Buoncuore, Adele Rocchetti, et al.
European Journal of Human Genetics : EJHG|January 22, 2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsMaria Lisa Dentici, Anna Sarkozy, Francesca Pantaleoni, et al.
American Journal of Human Genetics|June 15, 2006
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypeClaudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, et al.
British Journal of Haematology|April 22, 2005
Somatic PTPN11 mutations in childhood acute myeloid leukaemiaMarco Tartaglia, Simone Martinelli, Ivano Iavarone, et al.
Blood|February 26, 2004
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemiaMarco Tartaglia, Simone Martinelli, Giovanni Cazzaniga, et al.
Clinical Biochemistry|February 7, 2016
The Italian pilot external quality assessment program for cystic fibrosis sweat testMarco Salvatore, Giovanna Floridia, Annalisa Amato, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
International Journal of Environmental Research and Public Health|November 26, 2020
Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to ConsiderRosaria Talarico, Diana Marinello, Sara Cannizzo, et al.
Clinical Endocrinology|January 13, 2006
Genotyping of an Italian papillary thyroid carcinoma cohort revealed high prevalence of BRAF mutations, absence of RAS mutations and allowed the detection of a new mutation of BRAF oncoprotein (BRAF(V599lns))Claudio Carta, Sonia Moretti, Lucia Passeri, et al.
Journal of Biomedical Semantics|June 19, 2026
FAIR in practice: minimum metadata schema for bioinformatics analytics by machinesDaphne Wijnbergen, Núria Queralt-Rosinach, Valérie Barbié, et al.
Genome Announcements|April 20, 2013
Draft Genome Sequence of Stenotrophomonas maltophilia Strain EPM1, Found in Association with a Culture of the Human Parasite Giardia duodenalisDavide Sassera, Iacopo Leardini, Laura Villa, et al.
Sleep Medicine|May 26, 2026
The Italian registry for narcolepsy and central disorders of hypersomnolence (ReN&IS): Baseline clinical and diagnostic findingsPaola Torreri, Giorgia Buoncuore, Adele Rocchetti, et al.
European Journal of Human Genetics : EJHG|January 22, 2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsMaria Lisa Dentici, Anna Sarkozy, Francesca Pantaleoni, et al.
American Journal of Human Genetics|June 15, 2006
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotypeClaudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, et al.
British Journal of Haematology|April 22, 2005
Somatic PTPN11 mutations in childhood acute myeloid leukaemiaMarco Tartaglia, Simone Martinelli, Ivano Iavarone, et al.
Blood|February 26, 2004
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemiaMarco Tartaglia, Simone Martinelli, Giovanni Cazzaniga, et al.
Clinical Biochemistry|February 7, 2016
The Italian pilot external quality assessment program for cystic fibrosis sweat testMarco Salvatore, Giovanna Floridia, Annalisa Amato, et al.
Pageof 4