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1 Ergebnisse
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Biallelic CRELD1 variants cause a multisystem syndrome, inc..:
Jeffries, Lauren
;
Mis, Emily K.
;
McWalter, Kirsty
...
Genetics in Medicine. 26 (2024) 2 - p. 101023 , 2024
Link:
https://doi.org/10.1016/j.gim.2023.101023
RT Journal T1
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2023.101023&Exemplar=1&LAN=DE A1 Jeffries, Lauren A1 Mis, Emily K. A1 McWalter, Kirsty A1 Donkervoort, Sandra A1 Brodsky, Nina N. A1 Carpier, Jean-Marie A1 Ji, Weizhen A1 Ionita, Cristian A1 Roy, Bhaskar A1 Morrow, Jon S. A1 Darbinyan, Armine A1 Iyer, Krishna A1 Aul, Ritu B. A1 Banka, Siddharth A1 Chao, Katherine R. A1 Cobbold, Laura A1 Cohen, Stacey A1 Custodio, Helena M. A1 Drummond-Borg, Margaret A1 Elmslie, Frances A1 Finanger, Erika A1 Hainline, Bryan E. A1 Helbig, Ingo A1 Hewson, Stacy A1 Hu, Ying A1 Jackson, Adam A1 Josifova, Dragana A1 Konstantino, Monica A1 Leach, Meganne E. A1 Mak, Bryan PB Elsevier BV YR 2024 SN 1098-3600 JF Genetics in Medicine VO 26 IS 2 SP 101023 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2023.101023 DO https://doi.org/10.1016/j.gim.2023.101023 SF ELIB - SuUB Bremen
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