Persistent URL of this record https://hdl.handle.net/1887/3184937
Documents
-
- Download
- 1-s2.0-S1098360021012727-main
- Publisher's Version
- open access
- Full text at publishers site
In Collections
This item can be found in the following collections:
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
- All authors
- Weiss, K.; Lazar, H.P.; Kurolap, A.; Martinez, A.F.; Paperna, T.; Cohen, L.; Smeland, M.F.; Whalen, S.; Heide, S.; Keren, B.; Terhal, P.; Irving, M.; Takaku, M.; Roberts, J.D.; Petrovich, R.M.; Vergano, S.A.S.; Kenney, A.; Hove, H.; DeChene, E.; Quinonez, S.C.; Colin, E.; Ziegler, A.; Rumple, M.; Jain, M.; Monteil, D.; Roeder, E.R.; Nugent, K.; Haeringen, A. van; Gambello, M.; Santani, A.; Medne, L.; Krock, B.; Skraban, C.M.; Zackai, E.H.; Dubbs, H.A.; Smol, T.; Ghoumid, J.; Parker, M.J.; Wright, M.; Turnpenny, P.; Clayton-Smith, J.; Metcalfe, K.; Kurumizaka, H.; Gelb, B.D.; Feldman, H.B.; Campeau, P.M.; Muenke, M.; Wade, P.A.; Lachlan, K.
- Date
- 2020-02-01
- Journal
- Genetics in Medicine
- Volume
- 22
- Issue
- 2
- Pages
- 389 - 397