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  1. Pierpont, Elizabeth I. [Author]; Bennett, Anton M. [Author]; Schoyer, Lisa [Author]; Stronach, Beth [Author]; Anschutz, April [Author]; Borrie, Sarah C. [Author]; Briggs, Benjamin [Author]; Burkitt-Wright, Emma [Author]; Castel, Pau [Author]; Cirstea, Ion Cristian [Author]; Draaisma, Fieke [Author]; Ellis, Michelle [Author]; Fear, Vanessa S. [Author]; Frone, Megan N. [Author]; Flex, Elisabetta [Author]; Gelb, Bruce D. [Author]; Green, Tamar [Author]; Gripp, Karen W. [Author]; Khoshkhoo, Sattar [Author]; Kieran, Mark W. [Author]; Kleemann, Karolin [Author]; Klein-Tasman, Bonita P. [Author]; Kontaridis, Maria I. [Author]; Kruszka, Paul [Author]; [...]

    The 8th International RASopathies symposium : expanding research and care practice through global collaboration and advocacy

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    2024

    Published in: American journal of medical genetics ; 194(2024), 4, Artikel-ID e63477

  10. Muto, Valentina; Benigni, Federica; Magliocca, Valentina; Borghi, Rossella; Flex, Elisabetta; Pallottini, Valentina; Rosa, Alessandro; Compagnucci, Claudia; Tartaglia, Marco

    CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes

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    MDPI AG, 2023

    Published in: International Journal of Molecular Sciences, 24 (2023) 9, Seite 7988

  11. Biscetti, Federico; Nardella, Elisabetta; Bonadia, Nicola; Angelini, Flavia; Pitocco, Dario; Santoliquido, Angelo; Filipponi, Marco; Landolfi, Raffaele; Flex, Andrea

    Association between plasma omentin-1 levels in type 2 diabetic patients and peripheral artery disease

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    Springer Science and Business Media LLC, 2019

    Published in: Cardiovascular Diabetology, 18 (2019) 1

  12. Biscetti, Federico; Bonadia, Nicola; Santini, Francesco; Angelini, Flavia; Nardella, Elisabetta; Pitocco, Dario; Santoliquido, Angelo; Filipponi, Marco; Landolfi, Raffaele; Flex, Andrea

    Sortilin levels are associated with peripheral arterial disease in type 2 diabetic subjects

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    Springer Science and Business Media LLC, 2019

    Published in: Cardiovascular Diabetology, 18 (2019) 1

  13. Silengo, Margherita; Defilippi, Claudio; Belligni, Elga; Biamino, Elisa; Flex, Elisabetta; Brusco, Alfredo; Ferrero, Giovanni Battista; Tartaglia, Marco; Hennekam, Raoul C.

    Progressive extreme heterotopic calcification

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    Wiley, 2013

    Published in: American Journal of Medical Genetics Part A, 161 (2013) 7, Seite 1706-1713

  14. Hornakova, Tekla; Staerk, Judith; Royer, Yohan; Flex, Elisabetta; Tartaglia, Marco; Constantinescu, Stefan N.; Knoops, Laurent; Renauld, Jean-Christophe

    Acute Lymphoblastic Leukemia-associated JAK1 Mutants Activate the Janus Kinase/STAT Pathway via Interleukin-9 Receptor α Homodimers

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    Elsevier BV, 2009

    Published in: Journal of Biological Chemistry, 284 (2009) 11, Seite 6773-6781

  16. Bocchinfuso, Gianfranco; Stella, Lorenzo; Martinelli, Simone; Flex, Elisabetta; Carta, Claudio; Pantaleoni, Francesca; Pispisa, Basilio; Venanzi, Mariano; Tartaglia, Marco; Palleschi, Antonio

    Structural and functional effects of disease‐causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP‐2

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    Wiley, 2007

    Published in: Proteins: Structure, Function, and Bioinformatics, 66 (2007) 4, Seite 963-974

  18. Mangino, Massimo; Flex, Elisabetta; Capon, Francesca; Sangiuolo, Federica; Carraro, Edoardo; Gualandi, Francesca; Mazzoli, Manuela; Martini, Alessandro; Novelli, Giuseppe; Dallapiccola, Bruno

    Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26

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    Springer Science and Business Media LLC, 2001

    Published in: European Journal of Human Genetics, 9 (2001) 9, Seite 667-671

  19. Leoni, Chiara; Viscogliosi, Germana; Onesimo, Roberta; Verdolotti, Tommaso; Biagini, Tommaso; Mazza, Tommaso; De Luca, Alessandro; Perri, Lucrezia; Trevisan, Valentina; Flex, Elisabetta; Tartaglia, Marco; Zampino, Giuseppe

    Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome

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    Wiley, 2023

    Published in: Clinical Genetics, 104 (2023) 1, Seite 136-138