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RAPSN
A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
Genomic Landscape and Clonal Architecture of Mouse Oral Squamous Cell Carcinomas Dictate Tumour Ecology
The First Case of Congenital Myasthenic Syndrome Caused by A
Limb Girdle Myasthenia with Digenic RAPSN and a Novel Disease Gene AK9 Mutations
High Throughput Genetic Analysis of Congenital Myasthenic Syndromes Using Resequencing Microarrays Lisa Denning1, Jennifer A
Italian Recommendations for Diagnosis and Management of Congenital Myasthenic Syndromes
Multiexon Deletions Account for 15% of Congenital Myasthenic
Skeletal Muscle Transcriptome Alterations Related to Physical Function Decline in Older Mice
Lineage-Specific Effector Signatures of Invariant NKT Cells Are Shared Amongst Δγ T, Innate Lymphoid, and Th Cells
Systems Analysis Identifies Melanoma-Enriched Pro-Oncogenic Networks
Identification of Novel Regulatory Genes in Acetaminophen
Table S1. 103 Ferroptosis-Related Genes Retrieved from the Genecards
Blueprint Genetics Congenital Myasthenic Syndromes Panel
Mycobacterium Tuberculosis Induced Transcription in Macrophages: the Role of TPL2/ERK Signalling in the Negative Regulation of T
Genetic Associations in Myasthenia Gravis
RNA-Seq Analysis of Tgfβ3 Mice Ozturk Et Al
Novel Pathomechanisms Implicated in Defects of Neuromuscular Transmission
Identification of Significant Pathways in Gastric Cancer Based on Protein-Protein Interaction Networks and Cluster Analysis
Top View
Congenital Myasthenic Syndromes Josef Finsterer
RAPSN Gene Receptor Associated Protein of the Synapse
Novel SEA and LG2 Agrin Mutations Causing Congenital Myasthenic
Primepcr™Assay Validation Report
A Mechanism in Agrin Signaling Revealed by a Prevalent Rapsyn
The Congenital Myasthenic Syndrome Mutation RAPSN N88K Derives
Nicotinic Acetylcholine Receptors in Human Genetic Disease
Regulation of Nicotinic Acetylcholine Receptor Stability at the Mouse Neuromuscular Junction By
Possible Founder Effect of Rapsyn N88K Mutation and Identification Of
11P11.12P12 Duplication in a Family with Intellectual Disability And
Integration of a Single-Step Genome-Wide Association Study
Modeling Regulatory Network Topology Improves Genome-Wide Analyses of Complex Human Traits ✉ ✉ Xiang Zhu 1,2,3 , Zhana Duren3,4 & Wing Hung Wong 3,5
REPORT Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients
Ebruneau 1.Pdf
When Whole Exome (And Workup) Is Wholly Confusing