editorial | Q871232 |
scholarly article | Q13442814 |
P356 | DOI | 10.1007/S12098-016-2035-0 |
P698 | PubMed publication ID | 26872684 |
P2093 | author name string | Ratna Dua Puri | |
P2860 | cites work | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 |
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants. | Q35716022 | ||
Whole-genome sequencing for optimized patient management | Q35857612 | ||
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth | Q36292736 | ||
The usefulness of whole-exome sequencing in routine clinical practice. | Q50657606 | ||
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. | Q50967429 | ||
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing | Q57642222 | ||
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient | Q85445096 | ||
P433 | issue | 4 | |
P304 | page(s) | 281-282 | |
P577 | publication date | 2016-02-13 | |
P1433 | published in | Indian Journal of Pediatrics | Q26842079 |
P1476 | title | Next Generation Sequencing in the Clinic | |
P478 | volume | 83 |
Q54090777 | Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy | cites work | P2860 |
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