1 HermanskyPudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis
来源：PIGM CELL MELANOMA R( P 1755-1471 E 1755-148X ) 发表时间: 2013/03
类型：期刊论文 为本人加分：5341.653870
2 Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism
来源：J INVEST DERMATOL( P 0022-202X E 1523-1747 ) 发表时间: 2013/07
类型：期刊论文 为本人加分：3614.449958
3 A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Ocul..
来源：J INVEST DERMATOL( P 0022-202X E 1523-1747 ) 发表时间: 2010/03
类型：期刊论文 为本人加分：2799.801911
4 Genetic analyses of Chinese patients with digenic oculocutaneous albinism
来源：CHINESE MED J-PEKING( P 0366-6999 E ) 发表时间: 2013/01
类型：期刊论文 为本人加分：2365.380428
5 Prenatal Genotyping of Four Common Oculocutaneous Albinism Genes in 51 Chinese Families
来源：J GENET GENOMICS( P 1673-8527 E 1873-5533 ) 发表时间: 2015/06
类型：期刊论文 为本人加分：2317.980394
6 NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndro..
来源：PIGM CELL MELANOMA R( P 1755-1471 E 1755-148X ) 发表时间: 2016/11
类型：期刊论文 为本人加分：2225.112896
7 Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production
来源：J CELL SCI( P 0021-9533 E 1477-9137 ) 发表时间: 2019/07
类型：期刊论文 为本人加分：1445.524882
8 Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome
来源：PIGM CELL MELANOMA R( P 1755-1471 E 1755-148X ) 发表时间: 2019/05
类型：期刊论文 为本人加分：1382.422008
9 Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutane..
来源：J DERMATOL SCI( P 0923-1811 E ) 发表时间: 2011/05
类型：期刊论文 为本人加分：1337.395475
10 New insights into the pathogenesis of Hermansky-Pudlak syndrome
来源：PIGM CELL MELANOMA R( P 1755-1471 E 1755-148X ) 发表时间: 2022/05
类型：期刊论文 为本人加分：951.888483
贡献度：共同通讯作者