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1 Ergebnisse
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Paternal uniparental disomy of chromosome 16 resulting in h..:
Liu, Jing
;
Chen, Baiyun
;
Liu, Yuchun
...
European Journal of Medical Genetics. 65 (2022) 9 - p. 104554 , 2022
Link:
https://doi.org/10.1016/j.ejmg.2022.104554
RT Journal T1
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2022.104554&Exemplar=1&LAN=DE A1 Liu, Jing A1 Chen, Baiyun A1 Liu, Yuchun A1 Kong, Jinghui A1 Zhang, Bo A1 Han, Liang A1 Mei, Daoqi A1 Ma, Cai Yun A1 Shang, Qing A1 Xie, Zhenhua A1 Xiao, Mengjun A1 Mei, Shiyue A1 Zhang, Yaodong A1 Gao, Chao A1 Li, Dongxiao PB Elsevier BV YR 2022 SN 1769-7212 JF European Journal of Medical Genetics VO 65 IS 9 SP 104554 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2022.104554 DO https://doi.org/10.1016/j.ejmg.2022.104554 SF ELIB - SuUB Bremen
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