Sort   by:  
 Page size 
UnknownGNE myopathy: new name and new mutation nomenclature.
Not available
S-EPMC4015343 | biostudies-literature
UnknownQuantification of lectin fluorescence in GNE myopathy muscle biopsies.
Not available
S-EPMC6105422 | biostudies-literature
UnknownBiallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
Not available
S-EPMC6534290 | biostudies-literature
UnknownSialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.
Not available
S-EPMC4160177 | biostudies-literature
UnknownInvestigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.
Not available
S-EPMC12171062 | biostudies-literature
UnknownHermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Not available
S-EPMC6385472 | biostudies-literature
UnknownMutation update for GNE gene variants associated with GNE myopathy.
Not available
S-EPMC4172345 | biostudies-literature
UnknownProgressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
Not available
S-EPMC9066931 | biostudies-literature
UnknownCystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
Not available
S-EPMC8378307 | biostudies-literature
UnknownJoubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Not available
S-EPMC8932443 | biostudies-literature
Sort   by:  
 Page size