Yanting Yang

Key Laboratory Of Coarse Cereal Processing
Chengdu, 610106, China

Last Updated: 09/26/2026

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Found 20 publications

Functional validation of a rare SOS1 gene variant and literature review

Functional validation of a rare SOS1 gene variant and literature review

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

Published: March 31, 2026

Preparation Optimization and Antioxidant Properties of the β-Glucan and Ferulic Acid/Quercetin Complex from Highland Barley (Hordeum vulgare var. nudum).

Preparation Optimization and Antioxidant Properties of the β-Glucan and Ferulic Acid/Quercetin Complex from Highland Barley (Hordeum vulgare var. nudum).

Journal: Foods (Basel, Switzerland)

Published: June 24, 2025

A novel deletion upstream of POU3F4 in a Chinese family with X-linked deafness 2 and a literature review.

A novel deletion upstream of POU3F4 in a Chinese family with X-linked deafness 2 and a literature review.

Journal: Frontiers in genetics

Published: June 05, 2025

Identification of a novel complex variant in a patient involving the α-globin gene cluster by third-generation sequencing.

Identification of a novel complex variant in a patient involving the α-globin gene cluster by third-generation sequencing.

Journal: Annals of hematology

Published: March 04, 2025

Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.

Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.

Journal: Orphanet journal of rare diseases

Published: March 17, 2024

The Quality Evaluation of Highland Barley and Its Suitability for Chinese Traditional Tsampa Processing.

The Quality Evaluation of Highland Barley and Its Suitability for Chinese Traditional Tsampa Processing.

Journal: Foods (Basel, Switzerland)

Published: January 05, 2024

Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China.

Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China.

Journal: Frontiers in genetics

Published: December 15, 2023

Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.

Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.

Journal: American journal of medical genetics. Part A

Published: August 30, 2023

Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility.

Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility.

Journal: Clinical genetics

Published: June 07, 2023

A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella.

A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella.

Journal: Frontiers in endocrinology

Published: January 31, 2023

Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.

Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.

Journal: Clinical genetics

Published: November 06, 2022

Population-based genetic analysis in infertile men reveals novel mutations of ADAD family members in patients with impaired spermatogenesis.

Population-based genetic analysis in infertile men reveals novel mutations of ADAD family members in patients with impaired spermatogenesis.

Journal: Human molecular genetics

Published: October 10, 2022

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Last Updated: 09/26/2026