Sort   by:  
 Page size 
UnknownAcid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders.
Not available
S-EPMC11558470 | biostudies-literature
UnknownRepeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Not available
S-EPMC9837832 | biostudies-literature
UnknownDe Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
Not available
S-EPMC5673633 | biostudies-literature
UnknownDihydropyrimidine dehydrogenase gene variants for predicting grade 4-5 fluoropyrimidine-induced toxicity: FUSAFE individual patient data meta-analysis.
Not available
S-EPMC10912560 | biostudies-literature
UnknownCIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Not available
S-EPMC11788579 | biostudies-literature
Sort   by:  
 Page size