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3. Genome Sequencing for Diagnosing Rare Diseases

4. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

8. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

10. Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

11. Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders

13. Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

14. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

15. WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

16. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

17. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

18. Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

20. Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

21. Pathogenic deep intronic MTM1variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

22. Recessive DEScardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

23. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

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