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Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China

Journal of human genetics, 2020-05, Vol.65 (5), p.469-473

2020

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The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans

Gene, 2018-02, Vol.644, p.49-55

2018

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Comparative Study on Exponentially Weighted Moving Average Approaches for the Self-Starting Forecasting

Applied sciences, 2020-10, Vol.10 (20), p.7351

2020

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Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy

Journal of human genetics, 2014-01, Vol.59 (1), p.24-27

2014

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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

Journal of molecular neuroscience, 2021, Vol.71 (1), p.112-121

2021

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

Heliyon, 2024-03, Vol.10 (6), p.e28015-e28015, Article e28015

2024

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

Clinica chimica acta, 2024-01, Vol.553, p.117743-117743, Article 117743

2024

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

Human molecular genetics, 2022-05, Vol.31 (10), p.1635-1650

2022

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

Neuromuscular disorders : NMD, 2021-06, Vol.31 (6), p.519-527

2021

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

Neuromuscular disorders : NMD, 2023-05, Vol.33 (5), p.382-390

2023

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SEDIMENTARY CHARACTERISTICS OF CHANG 9 OF YANGCHANG FORMATION IN PENGYANG-JINGCHUAN AREA, ORDOS BASIN

Fresenius environmental bulletin, 2022-01, Vol.31 (1), p.399

2022

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Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report

Molecular medicine reports, 2018-10, Vol.18 (4), p.4004-4008

2018

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Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype

Yíchuán, 2021-02, Vol.43 (2), p.160

2021

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The Natural History of Infant Spinal Muscular Atrophy in China: A Study of 237 Patients

Journal of child neurology, 2012-04, Vol.27 (4), p.471-477

2012

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Paleogeographic and sedimentary evolution of Meso–Neoproterozoic strata in the Ordos Basin, western North China Craton

Journal of petroleum science & engineering, 2022-08, Vol.215, p.110600, Article 110600

2022

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X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3

Molecular medicine reports, 2016-02, Vol.13 (2), p.1135-1140

2016

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Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA

Zhong hua yi xue za zhi, 2015-02, Vol.95 (6), p.430-434

2015

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Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing

Zhonghua yi xue yi chuan xue za zhi, 2015-02, Vol.32 (1), p.16

2015

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3-Dimensional porous N-doped graphene foam as a non-precious catalyst for the oxygen reduction reaction

Journal of materials chemistry. A, Materials for energy and sustainability, 2015-01, Vol.3 (7), p.3343-3350

2015

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Low- and middle-income countries demonstrate rapid growth of type 2 diabetes: an analysis based on Global Burden of Disease 1990–2019 data

Diabetologia, 2022-08, Vol.65 (8), p.1339-1352

2022

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Effect of hydraulic retention time on anaerobic co-digestion of cattle manure and food waste

Renewable energy, 2020-05, Vol.150, p.213-220

2020

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Novel energy-efficient electrodialysis system for continuous brackish water desalination: Innovative stack configurations and optimal inflow modes

Water research (Oxford), 2020-07, Vol.179, p.115847-115847, Article 115847

2020

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In-situ growth of anionic covalent organic frameworks efficaciously enhanced the monovalent selectivity of anion exchange membranes

Journal of membrane science, 2022-10, Vol.659, p.120818, Article 120818

2022

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Multi-resource dynamic coordinated planning of flexible distribution network

Nature communications, 2024-05, Vol.15 (1), p.4576-4576, Article 4576

2024

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Fabrication of cation exchange membrane with excellent stabilities for electrodialysis: A study of effective sulfonation degree in ion transport mechanism

Journal of membrane science, 2020-12, Vol.615, p.118539, Article 118539

2020

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Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China

The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans

Comparative Study on Exponentially Weighted Moving Average Approaches for the Self-Starting Forecasting

Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy

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

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

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

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

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

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

SEDIMENTARY CHARACTERISTICS OF CHANG 9 OF YANGCHANG FORMATION IN PENGYANG-JINGCHUAN AREA, ORDOS BASIN

Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report

Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype

The Natural History of Infant Spinal Muscular Atrophy in China: A Study of 237 Patients

Paleogeographic and sedimentary evolution of Meso–Neoproterozoic strata in the Ordos Basin, western North China Craton

X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3

Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA

Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing

3-Dimensional porous N-doped graphene foam as a non-precious catalyst for the oxygen reduction reaction

Low- and middle-income countries demonstrate rapid growth of type 2 diabetes: an analysis based on Global Burden of Disease 1990–2019 data

Effect of hydraulic retention time on anaerobic co-digestion of cattle manure and food waste

Novel energy-efficient electrodialysis system for continuous brackish water desalination: Innovative stack configurations and optimal inflow modes

In-situ growth of anionic covalent organic frameworks efficaciously enhanced the monovalent selectivity of anion exchange membranes

Multi-resource dynamic coordinated planning of flexible distribution network

Fabrication of cation exchange membrane with excellent stabilities for electrodialysis: A study of effective sulfonation degree in ion transport mechanism

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