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Shangzhi Huang

Peking Union Medical College

37

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1310

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[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (4) - Report interpretation and genetic counseling].

2020 Chinese journal of medical genetics
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[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (1) - Procedures prior to genetic testing].

2020 Chinese journal of medical genetics
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Clinical practice guidelines for phenylketonuria

2020 Chinese journal of medical genetics
- Shangzhi Huang
- Fang Song
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Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)

2019 bioRxiv
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Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry

2018 Chinese journal of medical genetics
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Corrigendum to succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses [Gene 574(2015) 41–47]

2016 Gene
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Multiple effects of curcumin on promoting expression of the exon 7-containing SMN2 transcript

2015 Genes and Nutrition
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Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.

2015 Gene
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Increase of a group of PTC+ transcripts by curcumin through inhibition of the NMD pathway

2015 Biochimica et Biophysica Acta
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Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing

2014 Clinica Chimica Acta
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