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Kortüm, Fanny; Jamra, Rami Abou; Alawi, Malik; Berry, Susan A; Borck, Guntram; Helbig, Katherine L; Tang, Sha; Huhle, Dagmar; Korenke, Georg Christoph; Hebbar, Malavika; Shukla, Anju; Girisha, Katta M; Steinlin, Maja; Waldmeier-Wilhelm, Sandra; Montomoli, Martino; Guerrini, Renzo; Lemke, Johannes R; Kutsche, Kerstin (2018). Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. European journal of human genetics, 26(5), pp. 695-708. Nature Publishing Group 10.1038/s41431-018-0098-2
Gaspar, Harald; Lutz, Bernd; Reicherter, Kerstin; Lühl, Simon; Taurman, Rita; Gabriel, Heinz; Brenner, Rolf E; Borck, Guntram (2017). 4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. American journal of medical genetics. Part A, 173(8), pp. 2289-2292. Wiley-Liss 10.1002/ajmg.a.38286
