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MeSH:(Waardenburg Syndrome/*diagnosis/genetics)

1.Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss.

Chiyan ZHOU ; Xiaodan LIU ; Qinhao SONG ; Suping LI ; Shaoping ZHONG ; Huaxiang SHEN

Chinese Journal of Medical Genetics 2019;36(5):477-479

2.Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome.

Lulu WANG ; Lu MAO ; Hongen XU ; Shuping SUN ; Bin ZUO ; Wei LU

Chinese Journal of Medical Genetics 2023;40(6):661-667

3.Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene.

Jingjing LI ; Hongfei KANG ; Xiangdong KONG

Chinese Journal of Medical Genetics 2023;40(11):1367-1372

4.Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.

Mi Ae JANG ; Taeheon LEE ; Junnam LEE ; Eun Hae CHO ; Chang Seok KI

Annals of Laboratory Medicine 2015;35(3):362-365

5.Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome.

Yong CHEN ; Fuwei YANG ; Hexin ZHENG ; Ganghua ZHU ; Peng HU ; Weijing WU

Chinese Journal of Medical Genetics 2015;32(6):810-813

6.Analysis of nuclear localization and signal function of MITF protein predisposing to Warrdenburg syndrome.

Hua ZHANG ; Juan FENG ; Hongsheng CHEN ; Jiada LI ; Hunjin LUO ; Yong FENG

Chinese Journal of Medical Genetics 2015;32(6):805-809

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