Associated Papers
Expanding the Phenotype Spectrum of β-Mannosidosis.
Martin Rios AM et al.
Neurology. Genetics, 2025
A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.
Chen Q et al.
Bmc Medical Genomics, 2025
41163060 (PubMed )
Supplement: 12920_2025_2248_MOESM1_ESM.xlsx › Sheet1
Sex differences in the genetic architecture of depression.
Kang HJ et al.
Scientific Reports, 2020
32555505 (PubMed )
Supplement: 41598_2020_66672_MOESM2_ESM.xlsx › Sheet1
The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus.
Gytz H et al.
The Febs Journal, 2019
Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.
Yu P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?
Oh SH et al.
Gut and Liver, 2015
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