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Further clinical and molecular characterization of an XLID ..:
Delanne, Julian
;
Lecat, Magaly
;
Blackburn, Patrick R.
...
European Journal of Medical Genetics. 66 (2023) 1 - p. 104670 , 2023
Link:
https://doi.org/10.1016/j.ejmg.2022.104670
RT Journal T1
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2022.104670&Exemplar=1&LAN=DE A1 Delanne, Julian A1 Lecat, Magaly A1 Blackburn, Patrick R. A1 Klee, Eric W. A1 Stumpel, Constance T.R.M. A1 Stegmann, Sander A1 Stevens, Servi J.C. A1 Nava, Caroline A1 Heron, Delphine A1 Keren, Boris A1 Mahida, Sonal A1 Naidu, Sakkubai A1 Babovic-Vuksanovic, Dusica A1 Herkert, Johanna C. A1 Torring, Pernille M. A1 Kibæk, Maria A1 De Bie, Isabelle A1 Pfundt, Rolph A1 Hendriks, Yvonne M.C. A1 Ousager, Lilian Bomme A1 Bend, Renee A1 Warren, Hannah A1 Skinner, Steven A. A1 Lyons, Michael J. A1 Pöe, Charlotte A1 Chevarin, Martin A1 Jouan, Thibaud A1 Garde, Aurore A1 Thomas, Quentin A1 Kuentz, Paul PB Elsevier BV YR 2023 SN 1769-7212 JF European Journal of Medical Genetics VO 66 IS 1 SP 104670 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2022.104670 DO https://doi.org/10.1016/j.ejmg.2022.104670 SF ELIB - SuUB Bremen
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