1. Engle, Elizabeth C. 美国 Harvard Medical School 2019美国医学院院士 Genotypic and Phenotypic Spectrum of Foveal Hypoplasia A Multicenter Study
2. Gahl, William A. 美国 National Human Genome Research Institute 2018美国医学院院士 Hermansky-Pudlak syndrome: Mutation update
3. Gahl, William A. 美国 National Human Genome Research Institute 2018美国医学院院士 Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects ..
4. Gahl, William A. 美国 National Human Genome Research Institute 2018美国医学院院士 Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense var..
5. Martin D,Tobin 英国 University of Leicester Genotypic and Phenotypic Spectrum of Foveal Hypoplasia A Multicenter Study
6. Irene,Gottlob 英国 University of Leicester Genotypic and Phenotypic Spectrum of Foveal Hypoplasia A Multicenter Study
7. Kazumasa,Wakamatsu 日本 FUJITA Health University Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutane..
8. Shosuke,Ito 日本 FUJITA Health University Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutane..
9. 陈佺 中国 南开大学 A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense gran..
10. Kazumasa,Wakamatsu 日本 FUJITA Health University Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome type..
11. Seishima, Mariko 日本 Gifu University Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome type..
12. Christian P,Hamel 法国 University of Montpellier Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of ..
13. Didier,Lacombe 法国 University of Bordeaux Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of ..