학술논문

1 . Academic Journal

Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review

저자: by Yu, Chaonan ; Lyn, Nan ; Li, Dongxiao ; Mei, ShiYue ; Liu, Lei ; Shang, Qing
소스: In European Journal of Medical Genetics January 2023 66(1)

2 . Academic Journal

Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability

저자: by Liu, Jing ; Chen, Baiyun ; Liu, Yuchun ; Kong, Jinghui ; Zhang, Bo ; Han, Liang ; Mei, Daoqi ; Ma, Cai Yun ; Shang, Qing ; Xie, Zhenhua ; Xiao, Mengjun ; Mei, Shiyue ; Zhang, Yaodong ; Gao, Chao ; Li, Dongxiao
소스: In European Journal of Medical Genetics September 2022 65(9)

3 . Academic Journal

A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome

저자: by Jiao, Zhihui ; Zhao, Xuechao ; Wang, Yanhong ; Wei, Erhu ; Mei, Shiyue ; Liu, Ning ; Kong, Xiangdong ; Shi, Huirong
소스: In European Journal of Medical Genetics April 2022 65(4)

4 . Academic Journal

A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy

저자: by Zhao, Xuechao ; Wang, Yanhong ; cai, Aojie ; Mei, Shiyue ; Liu, Ning ; Kong, Xiangdong
소스: In European Journal of Medical Genetics January 2021 64(1)

5 . Academic Journal

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype

저자: by Zhao, Xuechao ; Wang, Yanhong ; Mei, Shiyue ; Chen, Chen ; Liu, Lina ; Wang, Conghui ; Zhao, Ganye ; Kong, Xiangdong
소스: In European Journal of Medical Genetics September 2020 63(9)

6 . Academic Journal

HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.

저자: by Wang, Yanhong; Zheng, Xuan; Feng, Chao; Fan, Xiaoge; Liu, Lei; Guo, Pengbo; Lei, Zhi; Mei, Shiyue
소스: Molecular Genetics & Genomic Medicine. Oct2022, Vol. 10 Issue 10, p1-6. 6p.

7 . Academic Journal

Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.

저자: by Zhao, Xuechao; Ning, Haofeng; Wang, Yanhong; Zhao, Ganye; Mei, Shiyue; Liu, Ning; Wang, Conghui; Cai, Aojie; Wei, Erhu; Kong, Xiangdong
소스: Neurological Sciences. Jul2022, Vol. 43 Issue 7, p4439-4451. 13p. 1 Diagram, 2 Charts, 1 Graph.

8 . Academic Journal

A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay.

저자: by Zhao, Xuechao; Zheng, Yuting; Wang, Li; Wang, Yanhong; Mei, Shiyue; Kong, Xiangdong
소스: Molecular Genetics & Genomic Medicine. Apr2022, Vol. 10 Issue 4, p1-7. 7p.

9 . Academic Journal

Terminal dual-labeling of a transcribed RNA

저자: by Li, Shibo ; Ma, Dejun ; Yi, Long ; Mei, Shiyue ; Ouyang, Di ; Xi, Zhen
소스: In Bioorganic & Medicinal Chemistry Letters 1 December 2013 23(23):6304-6306

10 . Academic Journal

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole‐exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.

저자: by Zhao, Xuechao; Wang, Yanhong; Mei, Shiyue; Kong, Xiangdong
소스: Molecular Genetics & Genomic Medicine. Jun2020, Vol. 8 Issue 6, p1-7. 7p.

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