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HGSNAT
Supplementary Materials
Towards the Elucidation of Orphan Lysosomal Transporters Quentin Verdon
Mucopolysaccharidosis Type IIIA, and a Child with One SGSH Mutation and One GNS Mutation Is a Carrier
Human Induced Pluripotent Stem Cell–Derived Podocytes Mature Into Vascularized Glomeruli Upon Experimental Transplantation
EGL Test Description
Downloaded from Here
King's Research Portal
The Neuroprotective Role of the GM1 Oligosaccharide, Ii3neu5ac-Gg4, In
Clinical Features of Sodium-Taurocholate Cotransporting Polypeptide Deficiency in Pediatric Patients: Case Series and Literature Review
Tubular P53 Regulates Multiple Genes to Mediate AKI
Spatial Sorting Enables Comprehensive Characterization of Liver Zonation
NGS Panel Portfolio Bene T from Our Medical Expertise and Streamlined Genetic Testing
Lineage-Specific Effector Signatures of Invariant NKT Cells Are Shared Amongst Δγ T, Innate Lymphoid, and Th Cells
Metabolism Plays a Key Role During Macrophage Activation
Supplemental Figures 04 12 2017
Supplementary Table S1. Relative Change in Proteins Associated with Heme Biosynthesis and Degradation
SUPPLEMENTARY MATERIALS and METHODS PBMC Transcriptomics
A Genetic and Clinical Study of Individuals with Nonsyndromic
Top View
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome
The Endosome Is a Master Regulator of Plasma Membrane Collagen Fibril Assembly
Bucy Syndrome Associated with a Recessive Variant in HGSNAT in Two Siblings with Mucopolysaccharidosis Type IIIC (Sanfilippo C)
Integrin-Linked Kinase Controls Renal Branching Morphogenesis Via Dual Specificity Phosphatase 8
And Post-Symptomatic Frontotemporal Dementia-Like Mice with TDP-43
HGSNAT Gene Heparan-Alpha-Glucosaminide N-Acetyltransferase
Congenital Lactic Acidosis Panel, Varies
SUPPLEMENTARY DATA Supplementary Table 1. Characteristics of the Organ Donors and Human Islet Preparations Used for RNA-Seq
Targeted Genes and Methodology Details for Inborn Errors of Metabolism Custom Gene Panel
Mouse Hgsnat Conditional Knockout Project (CRISPR/Cas9)
Genepanel Mitochondrial Diseases Genepanel Paediatric Cardiomyopathy AARS2 AARS2 ABAT ABCC6 ACAD9 ABCC9 ACO2 ACAD8 AFG3L2 ACAD9
Genomic Unity® Prenatal Analysis
Protein List (6009)
You Can Check If Genes Are Captured by the Agilent Sureselect V5 Exome
EGL Test Description
WO 2017/106782 Al FIG. 5A
Progressive Neurologic and Somatic Disease in a Novel Mouse Model of Human Mucopolysaccharidosis Type IIIC
Gene Co-Expression and Histone Modification Signatures Are