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  1. García-Miñaúr, Sixto [Author]; Burkitt-Wright, Emma [Author]; Verloes, Alain [Author]; Shaikh, Guftar [Author]; Lebl, Jan [Author]; Östman-Smith, Ingegerd [Author]; Wolf, Cordula Maria [Author]; Castelló, Eduardo Ortega [Author]; Tartaglia, Marco [Author]; Zenker, Martin [Author]; Edouard, Thomas [Author]

    European Medical Education Initiative on Noonan syndrome : A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe

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    2022

    Published in: European journal of medical genetics ; 65(2022), 1, Artikel-ID 104371

  2. Wolf, Cordula Maria [Author]; Zenker, Martin [Author]; Burkitt-Wright, Emma [Author]; Edouard, Thomas [Author]; García-Miñaúr, Sixto [Author]; Lebl, Jan [Author]; Shaikh, Guftar [Author]; Tartaglia, Marco [Author]; Verloes, Alain [Author]; Östman-Smith, Ingegerd [Author]

    Management of cardiac aspects in children with Noonan syndrome : results from a European clinical practice survey among paediatric cardiologists

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    2022

    Published in: European journal of medical genetics ; 65(2022), 1, Artikel-ID 104372

  3. Edouard, Thomas [Author]; Zenker, Martin [Author]; Östman-Smith, Ingegerd [Author]; Castelló, Eduardo Ortega [Author]; Wolf, Cordula Maria [Author]; Burkitt-Wright, Emma [Author]; Verloes, Alain [Author]; García-Miñaúr, Sixto [Author]; Tartaglia, Marco [Author]; Shaikh, Guftar [Author]; Lebl, Jan [Author]

    Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe : a sub-analysis of a European clinical practice survey

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    2022

    Published in: European journal of medical genetics ; 65(2022), 1, Artikel-ID 104404

  4. El Hachem, May [Author]; Barresi, Sabina [Author]; Diociaiuti, Andrea [Author]; Boldrini, Renata [Author]; Condorelli, Angelo Giuseppe [Author]; Capoluongo, Ettore [Author]; Proto, Vittoria [Author]; Scuvera, Giulietta [Author]; Has, Cristina [Author]; Tartaglia, Marco [Author]; Castiglia, Daniele [Author]

    Phenotypic features of epidermolysis bullosa simplex due to KLHL24 mutations in 3 Italian cases

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    Uppsala: Acta Dermato-Venereologica, 2019

    Published in: Acta dermato venereologica ; 99, 2 (2019), 238-239

  5. Kenney-Jung, Daniel L. [Author]; Rogers, Dante J. [Author]; Kroening, Samuel J. [Author]; Zatkalik, Abigail L. [Author]; Whitmarsh, Ashley E. [Author]; Roberts, Amy E. [Author]; Zenker, Martin [Author]; Gambardella, Maria Luigia [Author]; Contaldo, Ilaria [Author]; Leoni, Chiara [Author]; Onesimo, Roberta [Author]; Zampino, Giuseppe [Author]; Tartaglia, Marco [Author]; Battaglia, Domenica I. [Author]; Pierpont, Elizabeth I. [Author]

    Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome : clinical presentation and associations with genotype

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    2022

    Published in: American journal of medical genetics / C ; 190(2022), 4, Seite 501-509

  6. Motta, Marialetizia [Author]; Solman, Maja [Author]; Bonnard, Adeline A. [Author]; Küchler, Alma [Author]; Pantaleoni, Francesca [Author]; Priolo, Manuela [Author]; Chandramouli, Balasubramanian [Author]; Coppola, Simona [Author]; Pizzi, Simone [Author]; Zara, Erika [Author]; Ferilli, Marco [Author]; Kayserili, Hülya [Author]; Onesimo, Roberta [Author]; Leoni, Chiara [Author]; Brinkmann, Julia [Author]; Vial, Yoann [Author]; Kamphausen, Susanne Barbara [Author]; Thomas-Teinturier, Cécile [Author]; Guimier, Anne [Author]; Cordeddu, Viviana [Author]; Mazzanti, Laura [Author]; Zampino, Giuseppe [Author]; Chillemi, Giovanni [Author]; Zenker, Martin [Author]; [...]

    Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

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    2022

    Published in: Human molecular genetics ; 31(2022), 16, Seite 2766-2778

  7. Brinkmann, Julia [Author]; Lißewski, Christina [Author]; Pinna, Valentina [Author]; Vial, Yoann [Author]; Pantaleoni, Francesca [Author]; Lepri, Francesca [Author]; Daniele, Paola [Author]; Burnyte, Birute [Author]; Cuturilo, Goran [Author]; Fauth, Christine [Author]; Gezdirici, Alper [Author]; Kotzot, Dieter [Author]; Güleç, Elif Yılmaz [Author]; Iotova, Violeta [Author]; Schanze, Denny [Author]; Ramond, Francis [Author]; Havlovicová, Markéta [Author]; Utine, Gulen Eda [Author]; Simsek-Kiper, Pelin Ozlem [Author]; Stoyanova, Milena [Author]; Verloes, Alain [Author]; Luca, Alessandro De [Author]; Tartaglia, Marco [Author]; Cavé, Hélène [Author];

    The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

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    2021

    Published in: European journal of human genetics ; 29(2021), 3, Seite 524-527

  8. Nakhaeirad, Saeideh [Author]; Haghighi, Fereshteh [Author]; Bazgir, Farhad [Author]; Dahlmann, Julia [Author]; Busley, Alexandra Viktoria [Author]; Buchholzer, Marcel [Author]; Kleemann, Karolin [Author]; Schänzer, Anne [Author]; Borchardt, Andrea [Author]; Hahn, Andreas [Author]; Kötter, Sebastian [Author]; Schanze, Denny [Author]; Anand, Ruchika [Author]; Funk, Florian Konrad Alexander [Author]; Kronenbitter, Annette [Author]; Scheller, Jürgen [Author]; Piekorz, Roland P. [Author]; Reichert, Andreas [Author]; Volleth, Marianne [Author]; Wolf, Matthew J. [Author]; Cirstea, Ion Cristian [Author]; Gelb, Bruce D. [Author]; Tartaglia, Marco [Author]; Schmitt, Joachim Paul Rüdiger [Author]; [...]

    Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues

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    2023

    Published in: Communications biology ; 6(2023), Artikel-ID 657

  9. Kontaridis, Maria I. [Author]; Roberts, Amy E. [Author]; Schill, Lisa [Author]; Schoyer, Lisa [Author]; Stronach, Beth [Author]; Andelfinger, Gregor [Author]; Aoki, Yoko [Author]; Axelrad, Marni E. [Author]; Bakker, Annette [Author]; Bennett, Anton M. [Author]; Broniscer, Alberto [Author]; Castel, Pau [Author]; Chang, Caitlin A. [Author]; Cyganek, Lukas [Author]; Das, Tirtha K. [Author]; Hertog, Jeroen den [Author]; Galperin, Emilia [Author]; Garg, Shruti [Author]; Gelb, Bruce D. [Author]; Gordon, Kristiana [Author]; Green, Tamar [Author]; Gripp, Karen W. [Author]; Itkin, Maxim [Author]; Kiuru, Maija [Author]; [...]

    The seventh international RASopathies symposium : pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

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    2022

    Published in: American journal of medical genetics / A ; 188(2022), 6, Seite 1915-1927

  10. Miramonti, Lino [Author]; Agostini, Matteo [Author]; Bolognino, Irene [Author]; Vogelaar, Bruce [Author]; von Feilitzsch, Franz [Author]; Weinz, Stefan [Author]; Wojcik, Marcin [Author]; Wurm, Michael [Author]; Yokley, Zachary [Author]; Zaimidoroga, Oleg [Author]; Zavatarelli, Sandra [Author]; Zuber, Kai [Author]; Zuzel, Grzegorz [Author]; Bonfini, Giuseppe [Author]; Bravo, David [Author]; Caccianiga, Barbara [Author]; Calaprice, Frank [Author]; Caminata, Alessio [Author]; Caprioli, Silvia [Author]; Carlini, Marco [Author]; Cavalcante, Paolo [Author]; Cavanna, Francesca [Author]; Altenmueller, Konrad [Author]; Chepurnov, Alexander [Author]; [...]

    Solar Neutrinos Spectroscopy with Borexino Phase-II

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    MDPI, 2018

    Published in: Universe 4(11), 118 - (2018). doi:10.3390/universe4110118

  11. Di noto, Lea [Author]; Agostini, Matteo [Author]; Bonfini, Giuseppe [Author]; Skorokhvatov, Mikhail [Author]; Smirnov, Oleg [Author]; Sotnikov, Albert [Author]; Stokes, Lee [Author]; Suvorov, Yura [Author]; Tartaglia, Roberto [Author]; Testera, Gemma [Author]; Thurn, Jan [Author]; Toropova, Maria [Author]; Unzhakov, Evgenii [Author]; Bravo, David [Author]; Veyssiere, Christian [Author]; Vishneva, Alina [Author]; Vivier, Matthieu [Author]; Vogelaar, Bruce [Author]; von Feilitzsch, Franz [Author]; Wang, HanGuo [Author]; Weinz, Stefan [Author]; Wojcik, Marcin [Author]; Wurm, Michael [Author]; Yokley, Zachary [Author]; [...]

    The SOX experiment hunts the sterile neutrino

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    Sissa Medialab Trieste, Italy, 2018

    Published in: Sissa Medialab Trieste, Italy 10 pp. (2018). doi:10.22323/1.307.0043 ; Proceedings of XVII International Workshop on Neutrino Telescopes — PoS(NEUTEL2017) - Sissa Medialab Trieste, Italy, 2018. - ISBN - doi:10.22323/1.307.0043 ; Proceedings of XVII International Workshop on Neutrino Telescopes — PoS(NEUTEL2017) - Sissa Medialab Trieste, Italy, 2018. - ISBN - doi:10.22323/1.307.0043 XVII International Workshop on Neutrino Telescopes, Venezia, Italy, 2017-03-13 - 2017-03-17

  12. Redchuk, Mariia [Author]; Agostini, Matteo [Author]; Bonfini, Giuseppe [Author]; Wurm, Michael [Author]; Zaimidoroga, Oleg [Author]; Zavatarelli, Sandra [Author]; Zuber, Kai [Author]; Zuzel, Grzegorz [Author]; Bravo, David [Author]; Caccianiga, Barbara [Author]; Calaprice, Frank [Author]; Caminata, Alessio [Author]; Cappelli, Luigi [Author]; Cavalcante, Paolo [Author]; Cavanna, Francesca [Author]; Chepurnov, Alexander [Author]; Choi, Koun [Author]; Altenmueller, Konrad [Author]; D'Angelo, Davide [Author]; Davini, Stefano [Author]; Derbin, Alexander [Author]; Di Giacinto, Attilio [Author]; Di Marcello, Valentino [Author]; Ding, XueFeng [Author]; [...]

    Comprehensive measurement of pp-chain solar neutrinos with Borexino

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    Sissa Medialab Trieste, Italy, 2020

    Published in: Sissa Medialab Trieste, Italy 400 pp. (2020). doi:10.22323/1.364.0400 ; Proceedings of European Physical Society Conference on High Energy Physics — PoS(EPS-HEP2019) - Sissa Medialab Trieste, Italy, 2020. - ISBN - doi:10.22323/1.364.0400 ; Proceedings of European Physical Society Conference on High Energy Physics — PoS(EPS-HEP2019) - Sissa Medialab Trieste, Italy, 2020. - ISBN - doi:10.22323/1.364.0400 European Physical Society Conference on High Energy Physics, Ghent, Belgium, 2019-07-10 - 2019-07-17