Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Mancini, Grazia M.S."'
Autor:
Smits, Daphne J., Dekker, Jordy, Douben, Hannie, Schot, Rachel, Magee, Helen, Bakhtiari, Somayeh, Koehler, Katrin, Huebner, Angela, Schuelke, Markus, Darvish, Hossein, Vosoogh, Shohreh, Tafakhori, Abbas, Jameie, Melika, Taghiabadi, Ehsan, Wilson, Yana, Shah, Margit, van Slegtenhorst, Marjon A., Medici-van den Herik, Evita G., van Ham, Tjakko J., Kruer, Michael C., Mancini, Grazia M.S.
Publikováno v:
In Human Genetics and Genomics Advances 10 October 2024 5(4)
Autor:
van der Laan, Liselot, Silva, Ananília, Kleinendorst, Lotte, Rooney, Kathleen, Haghshenas, Sadegheh, Lauffer, Peter, Alanay, Yasemin, Bhai, Pratibha, Brusco, Alfredo, de Munnik, Sonja, de Vries, Bert B.A., Vega, Angelica Delgado, Engelen, Marc, Herkert, Johanna C., Hochstenbach, Ron, Hopman, Saskia, Kant, Sarina G., Kira, Ryutaro, Kato, Mitsuhiro, Keren, Boris, Kroes, Hester Y., Levy, Michael A., Lock-Hock, Ngu, Maas, Saskia M., Mancini, Grazia M.S., Marcelis, Carlo, Matsumoto, Naomichi, Mizuguchi, Takeshi, Mussa, Alessandro, Mignot, Cyril, Närhi, Anu, Nordgren, Ann, Pfundt, Rolph, Polstra, Abeltje M., Trajkova, Slavica, van Bever, Yolande, José van den Boogaard, Marie, van der Smagt, Jasper J., Barakat, Tahsin Stefan, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Publikováno v:
In Human Genetics and Genomics Advances 9 January 2025 6(1)
Autor:
Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin S., Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., Kutsche, Kerstin
Publikováno v:
In Genetics in Medicine July 2023
Autor:
Mancini, Grazia M.S., Smits, Daphne J., Dekker, Jordy, Schot, Rachel, de Wit, Marie Claire Y., Lequin, Maarten H., Dremmen, Marjolein, Brooks, Alice S., van Ham, Tjakko, Verheijen, Frans W., Fornerod, Maarten, Dobyns, William B., Wilke, Martina
Publikováno v:
In European Journal of Paediatric Neurology November 2021 35:27-34
Autor:
Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan Ghayoor, Kirmani, Salman, Akbar, Fizza, Ibrahim, Shahnaz, Afroze, Bushra, Doosti, Mohammad, Ashrafzadeh, Farah, Babaei, Meisam, Efthymiou, Stephanie, Christoforou, Marilena, Sultan, Tipu, Ladda, Roger L., McLaughlin, Heather M., Truty, Rebecca, Mahida, Sonal, Cohen, Julie S., Baranano, Kristin, Ismail, Fatima Y., Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, Saadet, Maki, Yuta, Sachdev, Rani, Macintosh, Rebecca, Palmer, Elizabeth E., Mancini, Grazia M.S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, Matias, Wortmann, Saskia B., Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, Sian, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, Taroh, Campeau, Philippe M., Murakami, Yoshiko
Publikováno v:
In Genetics in Medicine October 2021 23(10):1873-1881
Autor:
Lieve, Krystien V.V., Verhagen, Judith M.A., Wei, Jinhong, Bos, J. Martijn, van der Werf, Christian, Rosés i Noguer, Ferran, Mancini, Grazia M.S., Guo, Wenting, Wang, Ruiwu, van den Heuvel, Freek, Frohn-Mulder, Ingrid M.E., Shimizu, Wataru, Nogami, Akihiko, Horigome, Hitoshi, Roberts, Jason D., Leenhardt, Antoine, Crijns, Harry J.G., Blank, Andreas C., Aiba, Takeshi, Wiesfeld, Ans C.P., Blom, Nico A., Sumitomo, Naokata, Till, Jan, Ackerman, Michael J., Chen, S.R. Wayne, van de Laar, Ingrid M.B.H., Wilde, Arthur A.M.
Publikováno v:
In Heart Rhythm February 2019 16(2):220-228
Autor:
Mancini, Grazia M.S.
Publikováno v:
In European Journal of Medical Genetics December 2018 61(12):741-743
Autor:
Vandervore, Laura V., Schot, Rachel, Hoogeboom, A. Jeannette M., Lincke, Carsten, de Coo, Irenaeus F., Lequin, Maarten H., Dremmen, Marjolein, van Unen, Leontine M.A., Saris, Jasper J., Jansen, Anna C., van Slegtenhorst, Marjon A., Wilke, Martina, Mancini, Grazia M.S.
Publikováno v:
In European Journal of Medical Genetics December 2018 61(12):783-789
Autor:
Smits, Daphne J., Dekker, Jordy, Schot, Rachel, Tabarki, Brahim, Alhashem, Amal, Demmers, Jeroen A.A., Dekkers, Dick H.W., Romito, Antonio, van der Spek, Peter J., van Ham, Tjakko J., Bertoli-Avella, Aida M., Mancini, Grazia M.S., Verrijzer, Peter
Publikováno v:
Human Genetics, 142(3), 379-397. Springer-Verlag
CLEC16A is a membrane-associated C-type lectin protein that functions as a E3-ubiquitin ligase. CLEC16A regulates autophagy and mitophagy, and reportedly localizes to late endosomes. GWAS studies have associated CLEC16A SNPs to various auto-immune an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cf202d809967dd150b3f09b0b431cc2
http://www.scopus.com/inward/record.url?scp=85144435617&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85144435617&partnerID=8YFLogxK
Publikováno v:
In European Journal of Medical Genetics October 2017 60(10):536-540