Anzahl der Einträge: 3.
2020
Brock, Stefanie ,
Vanderhasselt, Tim ,
Vermaning, Sietske,
Keymolen, Kathelijn ,
Régal, Luc ,
Romaniello, Romina ,
Wieczorek, Dagmar ,
Storm, Tim Matthias,
Schaeferhoff, Karin,
Hehr, Ute,
Kuechler, Alma,
Krägeloh-Mann, Ingeborg,
Haack, Tobias B.,
Kasteleijn, Esmee,
Schot, Rachel,
Mancini, Grazia Maria Simonetta,
Webster, Richard,
Mohammad, Shekeeb ,
Leventer, Richard J.,
Mirzaa, Ghayda,
Dobyns, William B. ,
Bahi-Buisson, Nadia,
Meuwissen, Marije,
Jansen, Anna C. und
Stouffs, Katrien
(2020)
Defining the phenotypical spectrum associated with variants in TUBB2A.
Journal of Medical Genetics 58 (1), S. 33-40.
Volltext nicht vorhanden.
2018
Hinreiner, Sophie,
Wieczorek, Dagmar,
Mueller, Dietmar,
Roedl, Tanja,
Thiel, Gundula,
Grasshoff, Ute,
Chaoui, Rabih und
Hehr, Ute
(2018)
Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics 178 (2), S. 198-205.
Volltext nicht vorhanden.
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.
Diese Liste wurde erzeugt am Sat Nov 23 09:18:45 2024 CET.