Suchergebnisse - "Bai, Jinli"

PubPharm (18)

1

Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA

enthalten in: Heliyon | 2024

von Qu, Y. | Bai, J. | Jiao, H. | +7

2

A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy

enthalten in: Clinica chimica acta; international journal of clinical chemistry | 2024

von Bai, J. | Qu, Y. | Huang, W. | +7

3

Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy

enthalten in: Neuromuscular disorders : NMD | 2023

von Bai, J. | Qu, Y. | OuYang, S. | +10

4

Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model

enthalten in: Human molecular genetics | 2022

von Wang, J. | Bai, J. | OuYang, S. | +10

5

Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay

enthalten in: Neuromuscular disorders : NMD | 2021

von Cao, Y. | Cheng, M. | Qu, Y. | +6

6

Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy

enthalten in: Journal of molecular neuroscience : MN | 2021

von Bai, J. | Qu, Y. | Song, F. | +5

7

Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1

enthalten in: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020

von Wang, Y. | Zhu, Y. | Bai, J. | +2

8

Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy

enthalten in: Journal of molecular neuroscience | 2020

von Bai, J. | Qu, Y. | Song, F. | +5

9

Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy

enthalten in: Journal of molecular neuroscience | 2020

von Bai, J. | Qu, Y. | Song, F. | +5

10

Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy

enthalten in: Journal of molecular neuroscience | 2020

von Bai, J. | Qu, Y. | Song, F. | +5