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B3GAT3
CRISPR Screening of Porcine Sgrna Library Identifies Host Factors
Table 2. Significant
Supplementary Table S4. FGA Co-Expressed Gene List in LUAD
Human Induced Pluripotent Stem Cell–Derived Podocytes Mature Into Vascularized Glomeruli Upon Experimental Transplantation
Metabolic Enzyme Expression Highlights a Key Role for MTHFD2 and the Mitochondrial Folate Pathway in Cancer
The Clinical and Mutational Spectrum of B3GAT3 Linkeropathy
A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family
Multiplexed Surrogate Analysis of Glycotransferase Activity in Whole Biospecimens † † ‡ Chad R
Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies
Homozygous XYLT2 Variants As a Cause of Spondyloocular Syndrome
Neuroendocrine Tumors Show Altered Expression of Chondroitin Sulfate, Glypican 1, Glypican 5, and Syndecan 2 Depending on Their Differentiation Grade
Supplemental Figures 04 12 2017
Ep 2336315 A2
Skeletal and Bone Mineral Density Features, Genetic Profile In
Targeted Genes and Methodology Details for Congenital Disorders of Glycosylation Gene Panel
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the Babyseq Project
Pseudodiastrophic Dysplasia Expands the Known Phenotypic Spectrum of Defects in Proteoglycan Biosynthesis
Top View
Congenital Disorders of Glycosylation Gene Panel, Varies
Online Supporting Information S2: Proteins in Each Negative Pathway
EGL Test Description
High Expression B3GAT3 Is Related with Poor Prognosis of Liver Cancer
Functional Validation of Novel Compound Heterozygous Variants in B3GAT3 Resulting in Severe Osteopenia and Fractures: Expanding the Disease Phenotype
Name Gene Symbol Hypertrophic /LVH Dilated/LV Systolic
Supplementary Table 1. List of Biological Candidate Genes and Their Functional Roles for Genetic Variant Analysis 2 (N=153)
Newborndxtm Advanced Sequencing Evaluation Disorders List
Diseases of Glycosylation Beyond Classical Congenital Disorders of Glycosylation
Multi-Level Proteomics Reveals Host-Perturbation Strategies Of
Metabolske Sykdommer V02
EGL Test Description
Generated by SRI International Pathway Tools Version 25.0 on Mon
Supplemmental Table S4
CRISPR Screening of Porcine Sgrna Library Identified Host Factors Essential for Japanese Encephalitis Virus Replication
Differential Expression of Proteoglycans by Corneal Stromal Cells in Keratoconus
Glycosyltransferase Genes That Cause Monogenic Congenital
Source: State: 12.06.2018 ORPHA68367 10507
Supplementary Table 1 Detailed Information About the Proteins in the Prostate Cancer & Benign Tissue
Supplementary File 2B Revised
A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Expanding the Phenotype of Linkeropathy Syndromes Kelly L
B3GAT3-Related Disorder with Craniosynostosis and Bone Fragility Due to a Unique Mutation
Cell-Specific Proteome Analyses of Human Bone Marrow
Immunity Resolution of Inflammation and Airway Diversity in Expression
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Recessive Gene List V2.0