Meichao Men

发表

Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV.

Yong Feng, L. Mei, Hongsheng Chen, 2014, Gene.

Phenotypic spectrum of idiopathic hypogonadotropic hypogonadism patients with CHD7 variants from a large Chinese cohort.

W. Zhou, Renhe Yu, Jia-Da Li, 2020, The Journal of clinical endocrinology and metabolism.

SLIT2 Rare Sequencing Variants Identified in Idiopathic Hypogonadotropic Hypogonadism

Zhenghuan Fang, Jinchen Li, Jia-Da Li, 2022, Hormone Research in Paediatrics.

Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome.

Wenting Dai, Jia-Da Li, Fang Jiang, 2019, Gene.

Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism

Wenting Dai, Jia-Da Li, Xinying Wang, 2021, Molecular genetics & genomic medicine.

MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype

Yong Feng, L. Mei, Hongsheng Chen, 2020, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism

Wenting Dai, Jia-Da Li, Fang Jiang, 2020, Clinical genetics.

Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.

Jia-Da Li, Fang Jiang, R. Zheng, 2019, Fertility and sterility.

Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism

Jia-Da Li, Xinying Wang, Wang Zeng, 2020, Journal of Medical Genetics.

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

D. Yan, Yong Feng, L. Mei, 2019, Neural plasticity.

Identification of a Novel CNV at 8q13 in a Family With Branchio‐Oto‐Renal Syndrome and Epilepsy

Hui Guo, Yong Feng, Hongsheng Chen, 2020, The Laryngoscope.

Exome Sequencing Identifies a Novel CEACAM16 Mutation Associated with Autosomal Dominant Nonsyndromic Hearing Loss DFNA4B in a Chinese Family

J. Yu, X. Liu, Jianguo Zhang, 2014, Journal of Human Genetics.

Variable DNA methylation of aging-related genes is associated with male COPD

Chengping Hu, Ling Qin, Ruo-xi He, 2019, Respiratory Research.

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.

X. Liu, Yong Feng, Jing Liu, 2019, Gene.

ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss

X. Liu, M. Li, D. Yan, 2018, Human Genetics.

Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation

Zhengmao Hu, Yong Feng, Chufeng He, 2011, Acta oto-laryngologica.

ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss

X. Liu, M. Li, D. Yan, 2018, Human Genetics.