Qinqin Sun,Jinqing Xiao,Jinfeng Huo
Qinqin Sun
A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M [0.03%]
FREM1新型纯合剪接突变扩展了BNAR综合征的表型谱系：功能验证及胚胎植入前遗传学检测取得成功
Lulu Yan,Yingwen Liu,Yuxin Zhang et al.
Lulu Yan et al.
A novel MYO6 variant identified in a Chinese family with autosomal dominant non-syndromic hearing loss [0.03%]
在中国一个患有常染色体显性非综合征听力损失的家庭中发现的一种新的MYO6变异体
Jing Wang,Qing-Wen Zhu,Ai-Ming Cui et al.
Jing Wang et al.
Long-read sequencing identifies complex structural variants in DMD patients [0.03%]
长读测序鉴定DMD患者的复杂结构变异
Yi Xie,Lijun Bao,Xuenan Yu et al.
Yi Xie et al.
A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review [0.03%]
少数民族MYH9基因突变相关病案1例及文献复习
Xia Yan,Zhenzhen Li,Shaojun Huang et al.
Xia Yan et al.
A novel maternally inherited CDKN1C variant in a familial beckwith-wiedemann syndrome case: expanding the genotype-phenotype spectrum [0.03%]
一个家族性贝克威思-威德曼综合征病例中发现一种新的母系遗传CDKN1C变异：扩展了基因型-表型谱系范围
Shanshan Wu,Yanan Zhang,Huifeng Zhang et al.
Shanshan Wu et al.
Pharmacogenomic study of the effects of saxagliptin on glucose control and hypoglycemic events [0.03%]
关于萨格列汀对血糖控制及低血糖事件的药理基因组学研究
Marc-Olivier Pilon,Simon de Denus,Géraldine Asselin et al.
Marc-Olivier Pilon et al.
Pathogenomics of multidrug-resistant Escherichia coli from bloodstream infections in South Africa [0.03%]
南非血流感染的多重耐药大肠杆菌的病原体基因组学研究
Bakoena Ashton Hetsa,Esther Eyram Asare Yeboah,Arshad Ismail et al.
Bakoena Ashton Hetsa et al.
The genetic landscape of breast cancer in young women from Morocco: implications for diagnosis and treatment [0.03%]
摩洛哥年轻女性乳腺癌的基因图谱：对诊断和治疗的意义
Brahim El Hejjioui,Abdelhamid Bouramtane,Laila Bouguenouch et al.
Brahim El Hejjioui et al.