array cgh experiments and analysis Search Results


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Genetic diagnosis, phenotype and diagnostic method in 34 cases
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Genetic diagnosis, phenotype and diagnostic method in 34 cases
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Genetic diagnosis, phenotype and diagnostic method in 34 cases
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Genetic diagnosis, phenotype and diagnostic method in 34 cases
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Genetic diagnosis, phenotype and diagnostic method in 34 cases

Journal: Epilepsia

Article Title: Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

doi: 10.1111/epi.16701

Figure Lengend Snippet: Genetic diagnosis, phenotype and diagnostic method in 34 cases

Article Snippet: 4a , BRAT1 (NM_152743) , c.1771‐1G > C; p.? c.294dup; p.(Leu99Thrfs*92) , AR compound heterozygous , ‐ , Brain malformation , 1 , Chrom. analysis, subtelom. analysis, array‐CGH, Sanger CTSD and MECP2 , WGS trio.

Techniques: Biomarker Discovery, Diagnostic Assay, Mutagenesis, Sequencing