Anzahl der Einträge: 2.
2017
Kuechler, Alma,
Czeschik, Johanna Christina,
Graf, Elisabeth,
Grasshoff, Ute,
Hüffmeier, Ulrike,
Busa, Tiffany,
Beck-Woedl, Stefanie,
Faivre, Laurence,
Rivière, Jean-Baptiste,
Bader, Ingrid,
Koch, Johannes,
Reis, André ,
Hehr, Ute,
Rittinger, Olaf,
Sperl, Wolfgang,
Haack, Tobias B.,
Wieland, Thomas,
Engels, Hartmut,
Prokisch, Holger ,
Strom, Tim M.,
Lüdecke, Hermann-Josef und
Wieczorek, Dagmar
(2017)
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
European Journal of Human Genetics 25 (2), S. 183-191.
Volltext nicht vorhanden.
2016
Thomas, Anna C.,
Zeng, Zhiqiang,
Rivière, Jean-Baptiste,
O’Shaughnessy, Ryan ,
Al-Olabi, Lara,
St.-Onge, Judith,
Atherton, David J.,
Aubert, Hélène,
Bagazgoitia, Lorea,
Barbarot, Sébastien ,
Bourrat, Emmanuelle,
Chiaverini, Christine,
Chong, W. Kling,
Duffourd, Yannis,
Glover, Mary,
Groesser, Leopold,
Hadj-Rabia, Smail ,
Hamm, Henning,
Happle, Rudolf,
Mushtaq, Imran,
Lacour, Jean-Philippe ,
Waelchli, Regula,
Wobser, Marion,
Vabres, Pierre ,
Patton, E. Elizabeth und
Kinsler, Veronica A.
(2016)
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Journal of Investigative Dermatology 136 (4), S. 770-778.
Volltext nicht vorhanden.
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