Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Pier L. Martelli

Assessment of Predicted Enzymatic Activity of Alpha‐N‐acetylglucosaminidase (NAGLU) Variants of Unknown Significance for CAGI 2016

English

Related publications

Functional Annotation of KCNQ1 Variants of Unknown Significance Using Automated Electrophysiology

Biophysical Journal

English

N-Acetylglucosaminidase-Α (NAGLU); Insulin-Like Growth Factor-2 (IGF-2); Mannose-6-Phosphate Receptor (M6P Receptor)

Science-Business eXchange

English

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

Cancer Research

Cancer Research

English

Characterization ofStaphylococcus aureusCell Wall Glycan Strands, Evidence for a New Β-N-Acetylglucosaminidase Activity

Journal of Biological Chemistry

Molecular Biology

English

Enhanced Transglycosylation Activity ofArthrobacter protophormiaeEndo--N-acetylglucosaminidase in Media Containing Organic Solvents

Journal of Biological Chemistry

Molecular Biology

English

Utilizing ExAC to Assess the Hidden Contribution of Variants of Unknown Significance to Sanfilippo Type B Incidence

Multidisciplinary

English

Assessment of Patient Clinical Descriptions and Pathogenic Variants From Gene Panel Sequences in the CAGI‐5 Intellectual Disability Challenge

English

Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients

Cancer Research and Treatment

Cancer Research

English

SANDHQFF DISEASE: INCREASED Β-D-N-Acetylglucosaminidase ACTIVITY AFTER CORTICOSTEROID EXPOSURE IN CULTIVATED SKIN FIBROBLASTS

Pediatric Research

English