Results 1 to 10 of about 21 (21)
Hermansky-Pudlak syndrome; a Case Report
Journal of Ophthalmic & Vision Research, 2010 Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising.
Abbas Bagheri, Asieh Abdollahi
doaj
Some of the next articles are maybe not open access.
Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome
Genes, 2022Yongguang Yuan, Chonglin Chen
exaly
Genetic variants associated with Hermansky-Pudlak syndrome
Platelets, 2020Kevin O'Brien +2 more
exaly
Hermansky-Pudlak syndrome (HPS): An epidemiologic study
Ophthalmic Paediatrics and Genetics, 1990Carl J Witkop, C J Witkop
exaly
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
Genetics in Medicine, 2020Michael Marks +2 more
exaly
Defective Surfactant Secretion in a Mouse Model of Hermansky-Pudlak Syndrome
American Journal of Respiratory Cell and Molecular Biology, 2005Susan Guttentag +2 more
exaly
American Journal of Respiratory and Critical Care Medicine, 2011
Elena N Atochina-Vasserman +2 more
exaly
Elena N Atochina-Vasserman +2 more
exaly
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2
Blood, 2013Sebastian Bode +2 more
exaly