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Article
Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype
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Article
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype
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Article
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency
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Article
Open AccessFounder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal condition that is a ciliopathy. MKS has marked phenotypic variability and genetic heterogeneity, with mutations in nine genes identified as causati...
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Chapter and Conference Paper
The Effect of Image Compression on Classification and Storage Requirements in a High-Throughput Crystallization System
High-throughput crystallization and imaging facilities can require a huge amount of disk space to keep images on-line. Although compressed images can look very similar to the human eye, the effect on the perfo...
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Chapter and Conference Paper
Data classification using a W.I.S.E. toolbox
This paper describes a toolbox for manipulating huge databases that are created in many scientific domains. The Whole Information System Expert (W.I.S.E.) was originally developed to fulfill the need for this ...
