Αποτελέσματα αναζήτησης - Marco Tartaglia
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Noonan syndrome and clinically related disorders από Marco Tartaglia, Bruce D. Gelb, Martin Zenker
Έκδοση 2011Revisão -
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Noonan syndrome από Amy E. Roberts, Judith Allanson, Marco Tartaglia, Bruce D. Gelb
Έκδοση 2013Revisão -
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Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib από Andrea Gazzin, Federico Fornari, Simona Cardaropoli, Diana Carli, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro Mussa
Έκδοση 2024Revisão -
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Acute Lymphoblastic Leukemia-associated JAK1 Mutants Activate the Janus Kinase/STAT Pathway via Interleukin-9 Receptor α Homodimers από Tekla Hornakova, Judith Staerk, Yohan Royer, Elisabetta Flex, Marco Tartaglia, Stefan N. Constantinescu, Laurent Knoops, Jean‐Christophe Renauld
Έκδοση 2009Artigo -
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Prenatal features of Noonan syndrome: prevalence and prognostic value από Giuseppina Baldassarre, Alessandro Mussa, Anna Dotta, Elena Banaudi, Serena Forzano, Annalisa Marinosci, Cesare Rossi, Marco Tartaglia, Margherita Silengo, Giovanni Battista Ferrero
Έκδοση 2011Artigo -
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Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review από G.J. Reynolds, Andrea Gazzin, Diana Carli, Stefania Massuras, Simona Cardaropoli, Maria Luca, Beatrice Defilippi, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro Mussa
Έκδοση 2025Revisão -
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Decreased Proliferation and Altered Differentiation in Osteoblasts from Genetically and Clinically Distinct Craniosynostotic Disorders από Alessandra Fragale, Marco Tartaglia, Silvia Bernardini, Anna Maria Michela Di Stasi, Concezio Di Rocco, Francesco Velardi, Anna Teti, Piero A. Battaglia, Silvia Migliaccio
Έκδοση 1999Artigo -
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Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome από Elisabetta Flex, Andrea Ciolfi, Viviana Caputo, Valentina Fodale, Chiara Leoni, Daniela Melis, Maria Francesca Bedeschi, Laura Mazzanti, Antonio Pizzuti, Marco Tartaglia, Giuseppe Zampino
Έκδοση 2013Artigo -
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Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment από Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, Francesca Clementina Radio, Giovanni Chillemi, Enrico Bertini, Jacopo Garlasco, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani
Έκδοση 2023Revisão -
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Mutations in PAX2 Associate with Adult-Onset FSGS από Moumita Barua, Emilia Stellacci, Lorenzo Stella, Astrid Weins, Giulio Genovese, Valentina Muto, Viviana Caputo, Hakan R. Toka, Victoria T. Charoonratana, Marco Tartaglia, Martin R. Pollak
Έκδοση 2014Artigo -
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Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities από Elisabeth Losdyck, Tekla Hornakova, Lorraine Springuel, Sandrine Degryse, Olga Gielen, Jan Cools, Stefan N. Constantinescu, Elisabetta Flex, Marco Tartaglia, Jean‐Christophe Renauld, Laurent Knoops
Έκδοση 2015Artigo -
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Dominant Noonan syndrome-causing <i>LZTR1</i> mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling από Marialetizia Motta, Miray Fidan, Emanuele Bellacchio, Francesca Pantaleoni, Konstantin Schneider‐Heieck, Simona Coppola, Guntram Borck, Leonardo Salviati, Martin Zenker, Ion Cristian Cirstea, Marco Tartaglia
Έκδοση 2018Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Genetics
Gene
Mutation
Medicine
Phenotype
Noonan syndrome
Cancer research
KRAS
Cell biology
Internal medicine
Missense mutation
PTPN11
Signal transduction
Costello syndrome
Pathology
Bioinformatics
MAPK/ERK pathway
Biochemistry
Cancer
Disease
Exome sequencing
Immunology
Computational biology
Germline
Germline mutation
Colorectal cancer
Endocrinology
Gene expression
Kinase