Shangzhi Huang

Chinese Academy Of Medical Sciences And Peking Union Medical College
Beijing, 100005, China

Last Updated: 09/26/2026

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Found 10 publications

Clinical practice guidelines for phenylketonuria

Clinical practice guidelines for phenylketonuria

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: March 05, 2020

A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (3) - Data analysis

A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (3) - Data analysis

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: March 05, 2020

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

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

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: March 05, 2020

A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (2) - Sample collection, processing and detection

A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (2) - Sample collection, processing and detection

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: March 05, 2020

A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (1) - Procedures prior to genetic testing

A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (1) - Procedures prior to genetic testing

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: March 05, 2020

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

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

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: February 09, 2018

A novel indel NF1 mutation identified in a patient with neurofibromatosis type 1

A novel indel NF1 mutation identified in a patient with neurofibromatosis type 1

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: June 04, 2015

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

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

Journal: Genes & nutrition

Published: May 04, 2015

Increase of a group of PTC(+) transcripts by curcumin through inhibition of the NMD pathway.

Increase of a group of PTC(+) transcripts by curcumin through inhibition of the NMD pathway.

Journal: Biochimica et biophysica acta

Published: January 14, 2015

The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family

The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 03, 2014

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Last Updated: 09/26/2026