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 ; Wieczorek, Dagmar
; Hehr, Ute ; Rittinger, Olaf ; Sperl, Wolfgang ; Haack, Tobias B. ; Wieland, Thomas ; Engels, Hartmut ; Prokisch, Holger ; Strom, Tim M. ; Lüdecke, Hermann-Josef ; Wieczorek, Dagmar Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
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 and Wieczorek, Dagmar
(2017)
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
European Journal of Human Genetics 25 (2), pp. 183-191.
Date of publication of this fulltext: 20 Mar 2019 12:50
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| Item type | Article | ||||
| Journal or Publication Title | European Journal of Human Genetics | ||||
| Publisher: | Nature | ||||
|---|---|---|---|---|---|
| Place of Publication: | LONDON | ||||
| Volume: | 25 | ||||
| Number of Issue or Book Chapter: | 2 | ||||
| Page Range: | pp. 183-191 | ||||
| Date | 2017 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | BOHRING-OPITZ SYNDROME; NOVO FRAMESHIFT MUTATION; INTELLECTUAL DISABILITY; GENE; DISORDERS; PHENOTYPE; FAMILY; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 38752 |
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