日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

CEP85L基因的致病变异导致散发性和家族性后部为主的无脑回畸形

Meng-Han Tsai ,Alison M Muir ,Won-Jing Wang ,Yi-Ning Kang ,Kun-Chuan Yang ,Nian-Hsin Chao ,Mei-Feng Wu ,Ying-Chao Chang ,Brenda E Porter ,Laura A Jansen ,Guillaume Sebire ,Nicolas Deconinck ,Wen-Lang Fan ,Shih-Chi Su ,Wen-Hung Chung ,Edith P Almanza Fuerte ,Michele G Mehaffey ,Chung-Kin Chan ,Kheng-Seang Lim ,Richard J Leventer ,Paul J Lockhart ,Kate Riney ,John A Damiano ,Michael S Hildebrand ,Ghayda M Mirzaa ,William B Dobyns ,Samuel F Berkovic ,Ingrid E Scheffer ,Jin-Wu Tsai ,Heather C Mefford

Influence of neutrophil defects on Burkholderia cepacia complex pathogenesis.

中性粒细胞缺陷对洋葱伯克霍尔德菌复合体发病机制的影响

Porter Laura A, Goldberg Joanna B