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1 Ergebnisse
1
Bi-allelic variants in CEP295 cause Seckel-like syndrome pr..:
Li, Niu
;
Xu, Yufei
;
Chen, Hongzhu
...
eBioMedicine. 99 (2024) - p. 104940 , 2024
Link:
https://doi.org/10.1016/j.ebiom.2023.104940
RT Journal T1
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ebiom.2023.104940&Exemplar=1&LAN=DE A1 Li, Niu A1 Xu, Yufei A1 Chen, Hongzhu A1 Lin, Jingqi A1 AlAbdi, Lama A1 Bekheirnia, Mir Reza A1 Li, Guoqiang A1 Gofin, Yoel A1 Bekheirnia, Nasim A1 Faqeih, Eissa A1 Chen, Lina A1 Chang, Guoying A1 Tang, Jie A1 Yao, Ruen A1 Yu, Tingting A1 Wang, Xiumin A1 Fu, Wei A1 Fu, Qihua A1 Shen, Yiping A1 Alkuraya, Fowzan S. A1 Machol, Keren A1 Wang, Jian PB Elsevier BV YR 2024 SN 2352-3964 JF eBioMedicine VO 99 SP 104940 LK http://dx.doi.org/https://doi.org/10.1016/j.ebiom.2023.104940 DO https://doi.org/10.1016/j.ebiom.2023.104940 SF ELIB - SuUB Bremen
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