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1 Ergebnisse
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Functional biology of the Steel syndrome founder allele and..:
Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center
;
Gonzaga-Jauregui, Claudia
;
Yesil, Gozde
...
European Journal of Human Genetics. 28 (2020) 9 - p. 1243-1264 , 2020
Link:
https://doi.org/10.1038/s41431-020-0632-x
RT Journal T1
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41431-020-0632-x&Exemplar=1&LAN=DE A1 Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center A1 Gonzaga-Jauregui, Claudia A1 Yesil, Gozde A1 Nistala, Harikiran A1 Gezdirici, Alper A1 Bayram, Yavuz A1 Nannuru, Kalyan C. A1 Pehlivan, Davut A1 Yuan, Bo A1 Jimenez, Johanna A1 Sahin, Yavuz A1 Paine, Ingrid S. A1 Akdemir, Zeynep Coban A1 Rajamani, Saathyaki A1 Staples, Jeffrey A1 Dronzek, John A1 Howell, Kristen A1 Fatih, Jawid M. A1 Smaldone, Silvia A1 Schlesinger, Alan E. A1 Ramírez, Norman A1 Cornier, Alberto S. A1 Kelly, Melissa A. A1 Haber, Robert A1 Chim, Shek Man A1 Nieman, Kristy A1 Wu, Nan A1 Walls, Johnathon A1 Poueymirou, William A1 Siao, Chia-Jen PB Springer Science and Business Media LLC YR 2020 SN 1018-4813 SN 1476-5438 JF European Journal of Human Genetics VO 28 IS 9 SP 1243 OP 1264 LK http://dx.doi.org/https://doi.org/10.1038/s41431-020-0632-x DO https://doi.org/10.1038/s41431-020-0632-x SF ELIB - SuUB Bremen
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