Persistent URL of this record https://hdl.handle.net/1887/3276793
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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (vol 21, 10.1038/s41436-018-0259-2, 2019)
- All authors
- Kennedy, J.; Goudie, D.; Blair, E.; Chandler, K.; Joss, S.; McKay, V.; Green, A.; Armstrong, R.; Lees, M.; Kamien, B.; Hopper, B.; Tan, T.Y.; Yap, P.; Stark, Z.; Okamoto, N.; Miyake, N.; Matsumoto, N.; Macnamara, E.; Murphy, J.L.; McCormick, E.; Hakonarson, H.; Falk, M.J.; Li, D.; Blackburn, P.; Klee, E.; Babovic-Vuksanovic, D.; Schelley, S.; Hudgins, L.; Kant, S.; Isidor, B.; Cogne, B.; Bradbury, K.; Williams, M.; Patel, C.; Heussler, H.; Duff-Farrier, C.; Lakeman, P.; Scurr, I.; Kini, U.; Elting, M.; Reijnders, M.; Schuurs-Hoeijmakers, J.; Wafik, M.; Blomhoff, A.; Ruivenkamp, C.A.L.; Nibbeling, E.; Dingemans, A.J.M.; Douine, E.D.; Nelson, S.F.; Hempel, M.; Bierhals, T.; Lessel, D.; Johannsen, J.; Arboleda, V.A.; Newbury-Ecob, R.; DDD Study
- Date
- 2020-08-19
- Journal
- Genetics in Medicine
- Volume
- 22
- Issue
- 11
- Pages
- 1920 - 1920